The evaluation will consider cognitive abilities and sensory impairments to determine the most appropriate form of communication. Dendritic spines are small outgrowths from dendrites that further help transmit nerve impulses and increase communication between neurons. DYRK1A encodes the dual-specificity tyrosine phosphorylation-regulated kinase 1A, a highly conserved protein that plays an essential role in the development of the central nervous system. Monitor for constipation or overflow diarrhea. Note: (1) Per ACMG variant interpretation guidelines, the terms "pathogenic variants" and "likely pathogenic variants" are synonymous in a clinical setting, meaning that both are considered diagnostic and both can be used for clinical decision making. support organizations and/or registries for the benefit of individuals with this disorder However, the specific relationship between DYRK1A gene mutations and the signs and symptoms of ASD, as well as the other features that may occur in people with these mutations, is unclear. Dyrk1a is a murine homolog of the drosophila minibrain gene. Als u uw keuzes wilt aanpassen, klik dan op 'Privacyinstellingen beheren'. 2001 Oct 22 [updated 2022 Mar 10]. microcephaly, seizures, neonatal feeding issues, hypertonia, hypotonia, abnormal gait, foot abnormalities and eye problems. The DYRK1A gene provides instructions for making an enzyme that is important in the development of the nervous system. Further analysis showed its haploinsufficiency in mental retardation disease 7 and its involvement in Alzheimer's disease. For questions regarding permissions or whether a specified use is allowed, The Human Gene Mutation Database (HGMD): optimizing its use in a clinical diagnostic or research setting. The majority of affected individuals function in the moderate-to-severe range of intellectual disability; however, individuals with mild intellectual disability have also been reported. ", One thing I would say is reach out, Find support. Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL, et al. If the pathogenic variant identified in the proband is not identified in either parent, the following possibilities should be considered: The proband inherited a pathogenic variant from a parent with germline (or somatic and germline) mosaicism. Epub 2017 Jun 21. DYRK1A Syndrome Changes in the DRYK1A gene have been linked to intellectual disabilities, microcephaly, speech and language impairment, seizures, autism, and more. DYRK1A syndrome is still relatively new within the medical community. Before placement, an evaluation is made to determine needed services and therapies and an individualized education plan (IEP) is developed for those who qualify based on established motor, language, social, or cognitive delay. doi: 10.1016/j.celrep.2013.03.027. protein from UniProt. 1995;14:287301. This site needs JavaScript to work properly. Correction of cognitive deficits in mouse models of Down syndrome by a pharmacological inhibitor of DYRK1A. Careers. This genetic change can lead to a variety of symptoms which will vary from person to person. The .gov means its official. We support the children with this condition and the families that love them. All individuals show delayed development of speech. Microcephaly in DYRK1A syndrome appears more severe than in Angelman syndrome [Courcet et al 2012]. Investigation of the genetic overdosage found in Down syndrome, due to the trisomy of human chromosome 21, has pointed to one main driver gene, the Dual-specificity tyrosine-regulated kinase 1A (Dyrk1a). He can and he will. Based on current data, life span is not limited by this condition as several adult individuals have been reported. Affected individuals often have a clinically recognizable phenotype including a typical facial gestalt, feeding problems, seizures, hypertonia, gait disturbances, and foot anomalies [van Bon et al 2016]. distributors, and/or translators comply with the GeneReviews Copyright Notice and Usage Further analysis showed its. 2017;8:54. To establish the extent of the disease and needs in an individual diagnosed with DYRK1A syndrome, the evaluations summarized in Table 4 (if not performed as part of the evaluation that led to diagnosis) are recommended. It has been found to be involved in many biological processes during development and in adulthood. Other family members. -, Kinstrie R., Luebbering N., Miranda-Saavedra D., Sibbet G., Han J., Lochhead P.A., Cleghon V. Characterization of a domain that transiently converts class 2 DYRKs into intramolecular tyrosine kinases. Neuron. government site. 2016 Nov 8;7:13316. doi: 10.1038/ncomms13316. Here are some questions you might be thinking: Is there anyone else out there going through what we are going through? Education of parents/caregivers regarding common seizure presentations is appropriate. Autism-associated Dyrk1a truncation mutants impair Catechins as a Potential Dietary Supplementation in Prevention of Comorbidities Linked with Down Syndrome. Variants may include small intragenic deletions/insertions and missense, nonsense, and splice site variants; typically, exon or whole-gene deletions/duplications are not detected. Nature. The Challenging Pathway of Treatment for Neurogenesis Impairment in Down Syndrome: Achievements and Perspectives. Would you like email updates of new search results? Krumm N, Coe BP, Martin BK, Borenstein E, Nickerson DA, Mefford HC, Doherty D, OMIM; The current life expectancy for U.S. in 2023 is 79.11 years, a 0.08% increase from 2022. ABA therapy is targeted to the individual child's behavioral, social, and adaptive strengths and weaknesses and typically performed one on one with a board-certified behavior analyst. DYRK1A: a potential drug target for multiple Down syndrome neuropathologies. People with DYRK1A syndrome may also be more likely to have sensory processing disorder or be on the autism spectrum. Monitor for development of scoliosis & development of stiff gait. J. To date, individuals with DYRK1A syndrome are not known to reproduce. neuronal dendritic and spine growth and interfere with postnatal cortical Molecular genetic testing is recommended for the parents of the proband to confirm their genetic status and to allow reliable recurrence risk counseling. HGNC; Gene-targeted deletion/duplication analysis detects intragenic deletions or duplications. Consider eval for gastric tube placement in those w/dysphagia &/or aspiration risk. Mechanism of disease causation. -, Deciphering Developmental Disorders Study Group Large-scale discovery of novel genetic causes of developmental disorders. DYRK1A syndrome is caused by an alteration (deletion or duplication) in the DYRK1A gene on chromosome 21. Initial Posting: December 17, 2015; Last Update: March 18, 2021. Developmental Disabilities Administration (DDA) enrollment is recommended. GeneReviews, 2013 Nov 26 [updated 2020 May 21]. Sign up for Rare Weekly, The Mightys rare disease newsletter, to learn about a new rare condition every week. DYRK1A syndrome is characterized by intellectual disability including impaired speech development, autism spectrum disorder including anxious and/or stereotypic behavior problems, and microcephaly. status for family members; it is not meant to address all personal, cultural, or Would you like email updates of new search results? In the US, early intervention is a federally funded program available in all states that provides in-home services to target individual therapy needs. Treatment of manifestations: Educational and therapy programs to address the specific needs identified; routine treatment of epilepsy under the care of a neurologist; standard treatment for orthopedic, dental, cardiac, urogenital, ophthalmologic, constipation, and other medical issues. Consider evaluation for alternative means of communication (e.g., augmentative and alternative communication [AAC]) for individuals who have expressive language difficulties. Mol Psychiatry. However, iris coloboma, optic nerve dysfunction, corneal clouding, early cataract, and retinal detachment have also been reported [Bronicki et al 2015, Ji et al 2015, van Bon et al 2016, Earl et al 2017]. Widowati EW, Bamberg-Lemper S, Becker W. Mutational analysis of two residues in the DYRK homology box of the protein kinase DYRK1A. If CMA is not diagnostic, the next step is typically either a multigene panel or exome sequencing. Eval for constipation &/or overflow diarrhea. 2018 Mar;23(3):747-758. doi: 10.1038/mp.2016.253. Sci. Mol Autism. Several missense pathogenic variants have also been identified; most are located in the kinase domain, clustering in the proximity of the ATP binding pocket and the catalytic center. 1,853 Likes, 63 Comments - Fan Maps (@fanmaps) on Instagram: "Life Expectancy of Canada and United States by Province Like what I share? Get hand-picked resources and highlights from our Mighty community straight to your inbox. Bookshelf Normalizing the gene dosage of Dyrk1A in a mouse model of Down syndrome rescues several Alzheimer's disease phenotypes. DYRK1A gene mutations result in loss of the DYRK1A enzyme or an enzyme that does not function properly. chromosome 21. AAC devices can range from low-tech, such as picture exchange communication, to high-tech, such as voice-generating devices. DYRK1A syndrome is an autosomal dominant disorder typically caused by a de novo pathogenic variant. 2012;49:7316. Social work involvement for parental support. Neurodevelopmental delay, motor abnormalities and cognitive deficits in transgenic mice overexpressing Dyrk1A (minibrain), a murine model of Down's syndrome. For issues to consider in interpretation of sequence analysis results, click here. Truncation of the Down syndrome candidate gene DYRK1A in two unrelated patients with microcephaly. DYRK1A syndrome is caused by an alteration (deletion or duplication) in the DYRK1A gene on. Our little one blew his first kiss to me last week and has learned how to give us a hug. It brought me to tears. Dendrites are specialized extensions from neurons that are essential for the transmission of nerve impulses. Unable to load your collection due to an error, Unable to load your delegates due to an error. In 2021, an American was expected to live 76.1 years, which is down 2.8 years from the 2014 . Front Cell Neurosci. H, Haan E, Romano C, Mefford HC, Scheffer I, Gecz J, de Vries BB, Eichler EE. Data derived from the subscription-based professional view of Human Gene Mutation Database [Stenson et al 2020]. Monitor developmental progress & educational needs. One of the Hsa21 genes, DYRK1A (dual specificity tyrosine-phosphorylation-regulated kinase 1A), is a candidate causative gene for the structural and functional changes that occur in the DS brain, and for the associated cognitive and motor deficits ( Herault et al., 2017; Stagni et al., 2018 ). Disorders with Multiple Findings Suggestive of DYRK1A Syndrome. Special education law requires that children participating in an IEP be in the least restrictive environment feasible at school and included in general education as much as possible, when and where appropriate. Developmental regression is observed in classic Rett syndrome. It appears you entered an invalid email. Privacy Federal agency databases offer a rough estimate of life expectancy based on gender, national averages and other factors. Unauthorized use of these marks is strictly prohibited. It is appropriate to offer genetic counseling (including discussion of potential risks to offspring and reproductive options) to parents of affected individuals. Intragenic deletion in DYRK1A leads to mental retardation and primary microcephaly. Life expectancy is also lower than average, in a town that is one of the most deprived areas in the country. Ophthalmologic, urogenital, cardiac, and/or dental anomalies have been reported. CNS Neurol Disord Drug Targets. DYRK1A syndrome is an autosomal dominant disorder typically caused by a de novo pathogenic variant. O'Roak BJ, Vives L, Girirajan S, Karakoc E, Krumm N, Coe BP, Levy R, Ko A, Lee . van Bon BWM, Coe BP, de Vries BBA, et al. identifies recurrently mutated genes in autism spectrum disorders. Parla J, Demeter R, Fulton LL, Fulton RS, Magrini VJ, Ye K, Darnell JC, Darnell Viard J, Loe-Mie Y, Daudin R, Khelfaoui M, Plancon C, Boland A, Tejedor F, Huganir RL, Kim E, Kinoshita M, Liu G, Haucke V, Moncion T, Yu E, Hindie V, Blhaut H, Mircher C, Herault Y, Deleuze JF, Rain JC, Simonneau M, Lepagnol-Bestel AM. whenever the material is published elsewhere on the Web; and (iii) reproducers, So you just found out that someone you love has DYRK1A Syndrome. Heterozygous DYRK1A loss-of-function pathogenic variants include disruptive balanced translocation, deletion, and truncating sequence variants. Life expectancy at age 0 projected for the population of Spain in the year 2029 and calculated on a basis of static life tables is 81.5 years in the case of males and 87.2 years in the case of females. The present study applies the life-span theoretical concept of life longing (Sehnsucht) to grandparenthood as an important normative transition of middle and late adulthood that can be hoped for but not acted upon. Some have only febrile seizures in infancy. (2) Identification of a heterozygous DYRK1A variant of uncertain significance does not establish or rule out the diagnosis of this disorder. Epub 2017 Feb 7. 2010;3:ra16. It catalyzes its autophosphorylation on serine / threonine and tyrosine residues. Vision consultants should be a part of the child's IEP team to support access to academic material. Luco SM, Pohl D, Sell E, Wagner JD, Dyment DA, Daoud H. Case report of novel DYRK1A mutations in 2 individuals with syndromic intellectual disability and a review of the literature. They are the true experts, and based upon their knowledge we have been able write this GeneReview chapter. Data are compiled from the following standard references: gene from doi: 10.1242/dmm.035634. Smith ACM, Boyd KE, Brennan C, Charles J, Elsea SH, Finucane BM, Foster R, Gropman A, Girirajan S, Haas-Givler B. safe word ideas for shifting; theatre designer beatrice minns. No clinical practice guidelines for DYRK1A syndrome have been published. This gene is a homolog of Drosophila mnb (minibrain) gene. Epub 2012 Nov 15. Expressivity is similar in males and females [van Bon et al 2016]. Clinical phenotype of ASD-associated DYRK1A haploinsufficiency. Based on current information the prevalence is estimated1:200-1000 in individuals with an intellectual disability. Our families may be scattered all over the globe but its nice to know that we are not alone and that other people understand our journey. Valetto A, Orsini A, Bertini V, Toschi B, Bonuccelli A, Simi F, Sammartino I, Taddeucci G, Simi P, Saggese G. Molecular cytogenetic characterization of an interstitial deletion of chromosome 21 (21q22.13q22.3) in a patient with dysmorphic features, intellectual disability and severe generalized epilepsy. National Library of Medicine Recommended Surveillance for Individuals with DYRK1A Syndrome. Timing, rates and spectra of human germline mutation. May 22, 2021. For information on selection criteria, click here. This article on a gene on human chromosome 21 is a stub. This member contains a nuclear targeting signal sequence, a protein kinase domain, a leucine zipper motif, and a highly conservative 13-consecutive-histidine repeat. The invention provides for delivery, engineering and optimization of systems, methods, and compositions for manipulation of sequences and/or activities of target sequences. If your child has DYRK1A syndrome,find your tribe. A cross-sectional online study was conducted with N = 477 parents (73.5% women; age range: 40-81 years) whose adult children have not (yet) had offspring. [5] Alternative splicing of this gene generates several transcript variants differing from each other either in the 5' UTR or in the 3' coding region. See Mowat-Wilson Syndrome. This page is currently unavailable. Terms. prominent ears, deeply set eyes, a short nose and a recessed chin. Disclaimer. Seattle (WA): University of Washington, Seattle; 1993-2023. O'Roak BJ, Vives L, Fu W, Egertson JD, Stanaway IB, Phelps IG, Carvill G, All rights reserved. University of Washington, Seattle, Seattle (WA). Ages 3-5 years. Europe PMC is an archive of life sciences journal literature. For those receiving IEP services, the public school district is required to provide services until age 21. The diagnosis of DYRK1A syndrome is established in a proband with suggestive findings and a heterozygous pathogenic variant in DYRK1A identified by molecular genetic testing. Symptoms may include intellectual disabilities, developmental delays. Feeding therapy; gastrostomy tube placement may be required for persistent feeding issues. Nguyen TL, Duchon A, Manousopoulou A, Loac N, Villiers B, Pani G, Karatas M, Mechling AE, Harsan LA, Limanton E, Bazureau JP, Carreaux F, Garbis SD, Meijer L, Herault Y. Dis Model Mech. Signal. National Library of Medicine Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID. Pitt-Hopkins syndrome is caused by haploinsufficiency of TCF4 resulting from either a pathogenic variant in TCF4 or a deletion of the chromosome region in which TCF4 is located (18q21.2). Genes Dev. chromosome locus from Haploinsufficiency of DYRK1A has not been observed in control populations. In: Adam MP, Everman DB, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. Management: Specific recommendations regarding type of therapy can be made by a developmental pediatrician. Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A. DDA is a US public agency that provides services and support to qualified individuals. YH, Narzisi G, Leotta A, Kendall J, Grabowska E, Ma B, Marks S, Rodgers L, dyrk1a life expectancy +1 (760) 205-9936. To live the best life he could live because his diagnosis doesn't define him. 18 March 2021 (ha) Comprehensive update posted live. The DYRK1A gene provides instructions for making an enzyme that is important in the development of the nervous system. DYRK1A involved in various cellular processes during development and throughout the adult lifetime. These changes cause a loss of function meaning one of the two DYRK1A alleles (variant forms of a gene) doesn't function properly. The syndrome caused by mutations in the DYRK1A gene is a multisystem disorder characterized by several features: Intellectual disability (ID) All individuals show mild-severe ID. At least 11 DYRK1A gene mutations have been identified in people with autism spectrum disorder (ASD), a varied condition characterized by impaired social skills, communication problems, and repetitive behaviors. Whole-genome sequencing can help make a diagnosis. 2015;23:14827. We were fortunate enough to have a pediatrician who did his due diligence to find answers for us. Other medical concerns relate to febrile seizures in infancy; the development of epilepsy with seizures of the atonic, absence, and generalized myoclonic types; short stature; and gastrointestinal problems. 2015 Nov;23(11):1482-7. doi: organizations. The authors declare no conflict of interest. Phosphorylation of proteins helps to control (regulate) their activity. Neuroimaging. To incl motor, adaptive, cognitive, & speech/language eval, Eval for early intervention/ special education, Mobility, ADL, & need for adaptive devices, To incl eval of aspiration risk & nutritional status & gastroesophageal reflux. DYRK1A syndrome is an autosomal dominant disorder typically caused by a de novo pathogenic variant. Therefore, information may be adapted based upon novel medical scientific information in the future. top social media sites in bangladesh Bronicki LM, Redin C, Drunat S, Piton A, Lyons M, Passemard S, Baumann C, Faivre L, Thevenon J, Rivire JB, Isidor B, Gan G, Francannet C, Willems M, Gunel M, Jones JR, Gleeson JG, Mandel JL, Stevenson RE, Friez MJ, Aylsworth AS. Our doctor broke WGS down for us to help us better understand it. Symptoms may include intellectual disabilities, developmental delays. of GeneReviews chapters for use in lab reports and clinic notes are a permitted This genetic change can lead to a variety of symptoms which will vary from person to person. Our first visit with our genetics team didnt bear any fruit, the microarray came back with no findings. Wu BB, An Y, Qiu ZL, Wu BL. Type of mgmt depends on cause of sleep problem (e.g., adapt seizure medication, behavioral therapy, correct sleep hygiene, melatonin). Provid Careers. 2. The protein is a regulator of brain growth and function, including neurogenesis, neuronal proliferation and differentiation, synaptic transmission, and neurodegeneration. Contrary to popular belief, AAC devices do not hinder verbal development of speech, but rather support optimal speech and language development. Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A. Authors Helin Atas-Ozcan 1 , Vronique Brault 1 , Arnaud Duchon 1 , Yann Herault 1 2 When vision is normal, periodic follow up every 3-5 yrs. Autism spectrum disorder (ASD) ASD is frequently diagnosed in individuals with a DYRK1A mutation. mutations in DYRK1A. FOIA pentecostal assemblies of the world ordination; how to start a cna school in illinois dyrk1a life expectancy. Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID. Murray CR, Abel SN, McClure MB, Foster J 2nd, Walke MI, Jayakar P, Bademci G, Tekin M. Novel causative variants in DYRK1A, KARS, and KAT6A associated with intellectual disability and additional phenotypic features. The site is secure. But mostly as a grandparent, it makes my heart swell to see all these beautiful, smiling faces and know that each of them is such a blessing to us all. The risk to sibs of a proband depends on the genetic mechanism leading to the loss of UBE3A function: typically less than 1% risk for probands with a deletion or uniparental disomy, and as high as 50% for probands with an imprinting defect or a pathogenic variant of UBE3A. anne boleyn ghost photo Stenson PD, Mort M, Ball EV, Chapman M, Evans K, Azevedo L, Hayden M, Heywood S, Millar DS, Phillips AD, Cooper DN. 2019;21:275564. Rahbari R, Wuster A, Lindsay SJ, Hardwick RJ, Alexandrov LB, Turki SA, Dominiczak A, Morris A, Porteous D, Smith B, Stratton MR, Hurles ME, et al. DYRK1A Syndrome <span><i>DYRK1A</i> syndrome is an autosomal dominant disorder typically caused by a <i>de novo</i> pathogenic variant. Before In approximately 2/3 of individuals a moderate to severe ID is present. hereby granted to reproduce, distribute, and translate copies of content materials for The proteins whose activity the DYRK1A enzyme helps regulate are involved in various processes in cells, including cell growth and division (proliferation) and the process by which cells mature to carry out specific functions (differentiation). Studies have demonstrated that DYRK1A syndrome accounts for 0.1%-0.5% of individuals with intellectual disability and/or autism [Courcet et al 2012, O'Roak et al 2012, Deciphering Developmental Disorders Study Group 2015, van Bon et al 2016]. Dyrk1a is a murine homolog of the drosophila minibrain gene. Evers JM, Laskowski RA, Bertolli M, Clayton-Smith J, Deshpande C, Eason J, Elmslie F, Flinter F, Gardiner C, Hurst JA, Kingston H, Kini U, Lampe AK, Lim D, Male A, Naik S, Parker MJ, Price S, Robert L, Sarkar A, Straub V, Woods G, Thornton JM, Wright CF, et al. Dec 21;338(6114):1619-22. doi: 10.1126/science.1227764. Ophthalmologic, urogenital, cardiac, and/or dental anomalies have been reported. Sibs of a proband. use. Regular lifelong follow up as determined by specialists for issues present affecting heart, eyes, and teeth is recommended. While social media can have its drawbacks, this group is a light, shining across the oceans. Genetic counseling: DYRK1A syndrome symptoms vary. An AAC evaluation can be completed by a speech-language pathologist who has expertise in the area. Dyrk1a from Gene Function in Development and Physiology to Dosage Correction across Life Span in Down Syndrome Dyrk1a from Gene Function in Development and Physiology to Dosage Correction across Life Span in Down Syndrome Genes (Basel) 2021 Nov 20;12 (11):1833. Structural analysis of pathogenic mutations in the DYRK1A gene in patients with developmental disorders. Life expectancy at birth for women in the United States dropped 0.8 years from 79.9 years in 2020 to 79.1 in 2021, while life expectancy for men dropped one full year, from 74.2 years in 2020 to 73.2 in 2021. 2022 Aug 1;5(12):e202101205. JM, Borenstein E, Rieder MJ, Nickerson DA, Bernier R, Shendure J, Eichler EE. Eligibility differs by state but is typically determined by diagnosis and/or associated cognitive/adaptive disabilities. U.S. Department of Health and Human Services, dual specificity tyrosine-(Y)-phosphorylation regulated kinase 1A. official website and that any information you provide is encrypted No further modifications are allowed. MedlinePlus links to health information from the National Institutes of Health and other federal government agencies. Some individuals learn to speak; others show a lack of speech or the use of one- to two-word utterances only. An official website of the United States government. My son Jaxson was diagnosed with DYRK1A Syndrome when he was 15 months old. Home; Categories. Eur J Hum Genet. Prior to his diagnosis, he was misdiagnosed with laryngomalacia and. 8600 Rockville Pike Recommended Evaluations Following Initial Diagnosis in Individuals with DYRK1A Syndrome. Several strategies targeting the overdosage of DYRK1A in DS with specific kinase inhibitors have showed promising evidence that DS cognitive conditions can be alleviated. If a parent of the proband is known to have the. The PubMed wordmark and PubMed logo are registered trademarks of the U.S. Department of Health and Human Services (HHS). Life expectancy based on 2015 VBT Primary Table. microcephaly, seizures, neonatal feeding issues, hypertonia, hypotonia, abnormal gait, foot abnormalities and eye problems. These deletions are very rare. Redin C, Grard B, Lauer J, Herenger Y, Muller J, Quartier A, Masurel-Paulet A, Willems M, Lesca G, El-Chehadeh S, Le Gras S, Vicaire S, Philipps M, Dumas M, Geoffroy V, Feger C, Haumesser N, Alembik Y, Barth M, Bonneau D, Colin E, Dollfus H, Doray B, Delrue MA, Drouin-Garraud V, Flori E, Fradin M, Francannet C, Goldenberg A, Lumbroso S, Mathieu-Dramard M, Martin-Coignard D, Lacombe D, Morin G, Polge A, Sukno S, Thauvin-Robinet C, Thevenon J, Doco-Fenzy M, Genevieve D, Sarda P, Edery P, Isidor B, Jost B, Olivier-Faivre L, Mandel JL, Piton A. Oegema R, de Klein A, Verkerk AJ, Schot R, Dumee B, Douben H, Eussen B, Dubbel L, Poddighe PJ, van der Laar I, Dobyns WB, van der Spek PJ, Lequin MH, de Coo IF, de Wit MC, Wessels MW, Mancini GM. To date, 68 individuals have been reported with a pathogenic variant in DYRK1A [Mller et al 2008, van Bon et al 2011, Courcet et al 2012, O'Roak et al 2012, Redin et al 2014, Bronicki et al 2015, Ji et al 2015, Ruaud et al 2015, Luco et al 2016, van Bon et al 2016, Earl et al 2017, Evers et al 2017, Murray et al 2017, Blackburn et al 2019, Qiao et al 2019, Lee et al 2020]. Faivre L, Thevenon J, Riviere JB, Isidor B, Gan G, Francannet C, Willems M, Gunel C, Smith JD, Turner EH, Stanaway IB, Vernot B, Malig M, Baker C, Reilly B, Akey HHS Vulnerability Disclosure, Help If the <i>DYRK1A</i> pathogenic variant identified in the proband is not identified in either parent, the recurrence risk to sibs is estimated to be 1% because of the theoretic possibili</span> O'Roak BJ, Vives L, Fu W, Egertson JD, Stanaway IB, Phelps IG, Carvill G, Kumar A, Lee C, Ankenman K, Munson J, Hiatt JB, Turner EH, Levy R, O'Day DR, Krumm N, Coe BP, Martin BK, Borenstein E, Nickerson DA, Mefford HC, Doherty D, Akey JM, Bernier R, Eichler EE, Shendure J. Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders.