The DYRK1A enzyme is a kinase, which means that it adds a cluster of oxygen and phosphorus atoms (a phosphate group) to other proteins through a process called phosphorylation. The DYRK1A enzyme is a kinase, which means that it adds a cluster of oxygen and phosphorus atoms (a phosphate group) to other proteins through a process called phosphorylation. Clinical characteristics: 2017;8:54. sharing sensitive information, make sure youre on a federal GeneReviews, 2022 Jun 9. 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. Washington) are included with each copy; (ii) a link to the original material is provided Vision consultants should be a part of the child's IEP team to support access to academic material. The change can range from being a small change in the DNA or bigger change in the Chromosome that affects the DYRK1A gene. The report shows the disparity in life expectancy between men and women grew in 2021 from 5.7 years in 2020 to 5.9 years in 2021. 2022 Mighty Proud Media, Inc. All Rights Reserved. We frequented hospitals more often than most families for weight checks because of his inability to suck and swallow. Neuronal overexpression of Alzheimer's disease and Down's syndrome dyrk1a life expectancy - tourdefat.com official website and that any information you provide is encrypted Search ClinicalTrials.gov in the US and EU Clinical Trials Register in Europe for access to information on clinical studies for a wide range of diseases and conditions. This pattern of signs and symptoms is sometimes called DYRK1A-related intellectual disability syndrome. PDF Dyrk1a from Gene Function in Development and Physiology to Dosage 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. The PubMed wordmark and PubMed logo are registered trademarks of the U.S. Department of Health and Human Services (HHS). Ruaud L, Mignot C, Gut A, Ohl C, Nava C, Hron D, Keren B, Depienne C, Benoit V, Maystadt I, Lederer D, Amsallem D, Piard J. DYRK1A mutations in two unrelated patients. 2015 Nov;23(11):1482-7. doi: Sibs of a proband. Therefore, information may be adapted based upon novel medical scientific information in the future. CNS Neurol Disord Drug Targets. The DYRK1A gene provides instructions for making an enzyme that is important in the development of the nervous system. 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). Europe PMC is an archive of life sciences journal literature. My son Jaxson was diagnosed with DYRK1A Syndrome when he was 15 months old. Neuroimaging. Symptoms vary from one child to the next. doi: 10.1016/j.celrep.2013.03.027. DYRK1A: a potential drug target for multiple Down syndrome neuropathologies. In approximately 2/3 of individuals a moderate to severe ID is present. Correction of cognitive deficits in mouse models of Down syndrome by a pharmacological inhibitor of DYRK1A. "It is truly amazing how this group has begun to reach across the world, uniting families together who felt so alone with the news. Timing, rates and spectra of human germline mutation. Epub 2012 Nov 15. chromosome 21. Wanneer u onze sites en apps gebruikt, gebruiken we, gebruikers authenticeren, veiligheidsmaatregelen toepassen en spam en misbruik voorkomen, en, gepersonaliseerde advertenties en content weergeven op basis van interesseprofielen, de effectiviteit meten van gepersonaliseerde advertenties en content, en, onze producten en services ontwikkelen en verbeteren. University of Washington, Seattle, Seattle (WA). DYRK1A in neurodegeneration and cancer: Molecular basis - ScienceDirect Most people with ASD associated with DYRK1A gene mutations also have other signs and symptoms. 2022 May 11;16:903729. doi: 10.3389/fncel.2022.903729. Variants may include small intragenic deletions/insertions and missense, nonsense, and splice site variants; typically, exon or whole-gene deletions/duplications are not detected. DYRK1A syndrome is still relatively new within the medical community. Once the DYRK1A pathogenic variant has been identified in an affected family member, prenatal and preimplantation genetic testing are possible. When feeding dysfunction is severe, an NG-tube or G-tube may be necessary. DYRK1A syndrome is caused by an alteration (deletion or duplication) in the DYRK1A gene on. -, Earl RK, Turner TN, Mefford HC, Hudac CM, Gerdts J, Eichler EE, Bernier RA. Epilepsy. All individuals show delayed development of speech. Symptoms may include intellectual disabilities, developmental delays. 2022 May 12;14(10):2039. doi: 10.3390/nu14102039. The life expectancy is around four hours on the front line." The struggle to gain control of the eastern city, which had a prewar population of about 73,000, has been the most persistent fight . 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). 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. Molecular genetic testing in a child with developmental delay or an older individual with intellectual disability typically begins with chromosomal microarray analysis (CMA). Bookshelf -, Garrett S., Broach J. Federal agency databases offer a rough estimate of life expectancy based on gender, national averages and other factors. here. 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. Wang T, Guo H, Xiong B, Stessman HA, Wu H, Coe BP, Turner TN, Liu Y, Zhao W, Disclaimer, Developmental Delay / Intellectual Disability Management Issues, Dual specificity tyrosine-phosphorylation-regulated kinase 1A, Gene-targeted deletion/duplication analysis. MedlinePlus links to health information from the National Institutes of Health and other federal government agencies. He can and he will. An official website of the United States government. m7 bayonet rubber; navien recirculation timer setting; why did heaven's gate kill themselves; electric scooter hire surfers paradise; when was the epic of gilgamesh discovered; Federal government websites often end in .gov or .mil. doi: 10.1242/dmm.035634. -, Courcet JB, Faivre L, Malzac P, Masurel-Paulet A, Lopez E, Callier P, Lambert L, Lemesle M, Thevenon J, Gigot N, Duplomb L, Ragon C, Marle N, Mosca-Boidron AL, Huet F, Philippe C, Moncla A, Thauvin-Robinet C. The DYRK1A gene is a cause of syndromic intellectual disability with severe microcephaly and epilepsy. DYRK1A syndrome is characterized by intellectual disability including impaired speech development, autism spectrum disorder including anxious and/or stereotypic behavior problems, and microcephaly. pentecostal assemblies of the world ordination; how to start a cna school in illinois dyrk1a life expectancy. Impaired or absent DYRK1A enzyme function likely leads to abnormal regulation of gene expression and disrupts proper neural development. If a parent of the proband is known to have the. DYRK1A.org 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. Monitor developmental progress & educational needs. For information on selection criteria, click here. How much money needed for retirement depends a great deal on how long you expect to live. Eligibility differs by state but is typically determined by diagnosis and/or associated cognitive/adaptive disabilities. Gabellini C, Pucci C, De Cesari C, Martini D, Di Lauro C, Digregorio M, Norton W, Zippo A, Sessa A, Broccoli V, Andreazzoli M. Int J Mol Sci. May 22, 2021. dyrk1a life expectancy - loscabosmarlinfishing.com This genetic change can lead to a variety of symptoms which will vary from person to person. protein from UniProt. This article on a gene on human chromosome 21 is a stub. We have been exactly where you are and that's why we are here. mutations. 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. DYRK1A Syndrome <span><i>DYRK1A</i> syndrome is an autosomal dominant disorder typically caused by a <i>de novo</i> pathogenic variant. If the DYRK1A 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 possibility of parental germline mosaicism. Consider eval for gastric tube placement in those w/dysphagia &/or aspiration risk. I am a military spouse and a mother to two boys (one whom is diagnosed with Dyrk1a Syndrome). union square hospitality group gift card; clubhouse baseball baseball; forest service lease cabin for sale utah. DDA is a US public agency that provides services and support to qualified individuals. DYRK1A plays a role in major developmental steps of brain development, controlling the proliferation of neural progenitors, the migration of neurons, their dendritogenesis and the function of the synapse. Surveillance: Regular monitoring and guidance for educational and behavior problems, growth parameters and nutritional status, and safety of oral intake; regular lifelong follow up as determined by specialists for issues present affecting heart, eyes, and teeth. 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]. 1,853 Likes, 63 Comments - Fan Maps (@fanmaps) on Instagram: "Life Expectancy of Canada and United States by Province Like what I share? 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). Longing for . Bookshelf The site is secure. Als u uw keuzes wilt aanpassen, klik dan op 'Privacyinstellingen beheren'. We were fortunate enough to have a pediatrician who did his due diligence to find answers for us. Sci. DYRK1A Syndrome Changes in the DRYK1A gene have been linked to intellectual disabilities, microcephaly, speech and language impairment, seizures, autism, and more. top social media sites in bangladesh official website and that any information you provide is encrypted National Library of Medicine Stenson PD, Mort M, Ball EV, Chapman M, Evans K, Azevedo L, Hayden M, Heywood S, Millar DS, Phillips AD, Cooper DN. It catalyzes its autophosphorylation on serine/threonine and tyrosine residues. A novel de novo heterozygous DYRK1A mutation causes complete loss of DYRK1A function and developmental delay. 5 Things You Should Know About DYRK1A Syndrome - Yahoo! The genetics of primary microcephaly. to 69% when broadening criteria to incl ASD-related behaviors w/o formal diagnosis, Deficient expression or function of maternally inherited, Speech impairment, epilepsy, microcephaly, growth retardation, stereotypic behavior, & feeding difficulties. 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. Certain facial characteristics are also typical such as. The site is secure. 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. Disclaimer. Other signs and symptoms that may occur in these individuals include recurrent seizures (epilepsy), characteristic facial features, weak muscle tone (hypotonia), foot abnormalities, and walking problems (gait disturbance). If your child has DYRK1A syndrome,find your tribe. Provid Gene-targeted deletion/duplication testing will detect deletions ranging from a single exon to the whole gene; however, breakpoints of large deletions and/or deletion of adjacent genes (e.g., those described by Oegema et al [2010] and Valetto et al [2012]) may not be detected by these methods. We are a small but growing community of families that care for someone with a change affecting the DYRK1A gene. Terms. Other families have found DYRK1A syndrome by undergoing epilepsy or, Symptoms vary from one child to the next. Life Expectancy Calculator - Bankrate 8600 Rockville Pike Longing for grandparenthood: Its association with life satisfaction in Home; Categories. To date, individuals with DYRK1A syndrome are not known to reproduce. 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 ). This gene is a homolog of Drosophila mnb (minibrain) gene. Cell Sci. Treatment of Manifestations in Individuals with DYRK1A Syndrome. Certain facial characteristics are also typical such asprominent ears, deeply set eyes, a short nose and a recessed chin. In: Adam MP, Everman DB, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. Those diagnoses are steadily growing, with almost 400 people diagnosed worldwide. support organizations and/or registries for the benefit of individuals with this disorder Genetic counseling: 2022 Aug 1;5(12):e202101205. O'Roak BJ, Vives L, Fu W, Egertson JD, Stanaway IB, Phelps IG, Carvill G, [7] In addition, a polymorphism (SNP) in DYRK1A was found to be associated with HIV-1 replication in monocyte-derived macrophages, as well as with slower progression to AIDS in two independent cohorts of HIV-1-infected individuals. Symptoms vary from one child to the next. Kumar A, Lee C, Ankenman K, Munson J, Hiatt JB, Turner EH, Levy R, O'Day DR, Curating this page" Parenting our son with DYRK1A syndrome taught us to celebrate all of the little things. Life Expectancy (LE) tables are based on actual mortality experience collected from sources such as life insurance companies and the Social Security Administration. 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. Epub 2017 Feb 7. Phosphorylation of proteins helps to control (regulate) their activity. ADHD = attention-deficit/hyperactivity disorder; ADL = activities of daily living; ASD = autism spectrum disorder; MOI = mode of inheritance; PT = physical therapy, Medical geneticist, certified genetic counselor, or certified advanced genetic nurse, ASM = anti-seizure medication; DD = developmental delay; ID = intellectual disability; PT = physical therapy. DYRK1A involved in various cellular processes during development and throughout the adult lifetime. 2015;23:14827. Ophthalmologic, urogenital, cardiac, and/or dental anomalies have been reported. Clinical phenotype of ASD-associated DYRK1A haploinsufficiency. O'Roak BJ, Vives L, Girirajan S, Karakoc E, Krumm N, Coe BP, Levy R, Ko A, Lee 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. United Nations projections are also included through the year 2100. DYRK1A syndrome is caused by an alteration (deletion or duplication) in the DYRK1A gene on chromosome 21. GeneReviews is not responsible for the information provided by other However, this percentage increases to almost 70% when broadening the criteria to include ASD-related behaviors without a formal diagnosis [Earl et al 2017]. Commun. and transmitted securely. 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. life expectancy in the UK - Office for National Statistics These changes cause a loss of function meaning one of the two DYRK1A alleles (variant forms of a gene) doesn't function properly. This site needs JavaScript to work properly. To date, no clear difference in phenotype has been reported [Valetto et al 2012]. Further analysis showed its haploinsufficiency in mental retardation disease 7 and its involvement in Alzheimer's disease. The evaluation will consider cognitive abilities and sensory impairments to determine the most appropriate form of communication. dyrk1a life expectancy - reflectionsgallery.ae DYRK1A syndrome should be considered in individuals with mild-to-severe psychomotor developmental delay (DD) or intellectual disability (ID) AND any of the following additional features presenting in infancy or childhood: The diagnosis of DYRK1A syndrome is established in a proband with suggestive findings and a heterozygous pathogenic (or likely pathogenic) variant in DYRK1A identified by molecular genetic testing (see Table 1). Our first visit with our genetics team didnt bear any fruit, the microarray came back with no findings. Symptoms may include intellectual disabilities, developmental delays. Bethesda, MD 20894, Web Policies Samsung's rumored new Z Fold 5 hinge is reportedly in testing - The Verge OMIM Entries for DYRK1A Syndrome (View All in OMIM). When one of the alleles doesnt function it causes a similar set of signs and symptoms that include: Feeding Issues at Birth (Frequent Vomiting), Developmental Delay / Cognitive Impairment. In: Adam MP, Everman DB, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. C, Smith JD, Turner EH, Stanaway IB, Vernot B, Malig M, Baker C, Reilly B, Akey Wij, Yahoo, maken deel uit van de Yahoo-merkenfamilie. Further analysis showed its haploinsufficiency in mental retardation disease 7 and its involvement in Alzheimer's disease. non-membrane spanning protein tyrosine kinase activity, protein serine/threonine/tyrosine kinase activity, positive regulation of protein deacetylation, regulation of alternative mRNA splicing, via spliceosome, negative regulation of mRNA splicing, via spliceosome, negative regulation of DNA damage response, signal transduction by p53 class mediator, negative regulation of microtubule polymerization, GRCh38: Ensembl release 89: ENSG00000157540, GRCm38: Ensembl release 89: ENSMUSG00000022897, "Genome-wide association study identifies single nucleotide polymorphism in DYRK1A associated with replication of HIV-1 in monocyte-derived macrophages", "Entrez Gene: DYRK1A dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A", "DYRK1A, a novel determinant of the methionine-homocysteine cycle in different mouse models overexpressing this Down-syndrome-associated kinase", "Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders", "Phosphorylation of Ser640 in muscle glycogen synthase by DYRK family protein kinases", "A human homologue of Drosophila minibrain (MNB) is expressed in the neuronal regions affected in Down syndrome and maps to the critical region", "Gene identification in 1.6-Mb region of the Down syndrome region on chromosome 21", "Murine protein kinase CK2 alpha': cDNA and genomic cloning and chromosomal mapping", "Sequence characteristics, subcellular localization, and substrate specificity of DYRK-related kinases, a novel family of dual specificity protein kinases", "The DNA sequence of human chromosome 21", "The kinase DYRK1A phosphorylates the transcription factor FKHR at Ser329 in vitro, a novel in vivo phosphorylation site", "Regulation of Gli1 transcriptional activity in the nucleus by Dyrk1", "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences", https://en.wikipedia.org/w/index.php?title=DYRK1A&oldid=1136084360, Overview of all the structural information available in the, This page was last edited on 28 January 2023, at 17:37. [7], 2VX3, 2WO6, 3ANQ, 3ANR, 4AZE, 4MQ1, 4MQ2, 4NCT, 4YLJ, 4YLK, 4YLL, 4YU2, 5AIK, 5A4Q, 5A4E, 5A3X, 5A4T, 5A54, 5A4L, DYRK1A is a member of the dual-specificity tyrosine phosphorylation-regulated kinase (DYRK) family. information on the nature, mode(s) of inheritance, and implications of genetic disorders to help them In: Adam MP, Everman DB, Mirzaa GM, et al., editors. Connect Welcome Families Questions Research Donate 2. Although most extensively characterised for its role in brain development, DYRK1A is over-expressed in a variety of diseases including a number of human malignancies, such as haematological and brain cancers. van Bon BW, Coe BP, Bernier R, Green C, Gerdts J, Witherspoon K, Kleefstra T, Willemsen MH, Kumar R, Bosco P, Fichera M, Li D, Amaral D, Cristofoli F, Peeters H, Haan E, Romano C, Mefford HC, Scheffer I, Gecz J, de Vries BB, Eichler EE. Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A. The PubMed wordmark and PubMed logo are registered trademarks of the U.S. Department of Health and Human Services (HHS). Beyond that, private supportive therapies based on the affected individual's needs may be considered. This genetic change can lead to a variety of symptoms which will vary from person to. Data are compiled from the following standard references: gene from Accessibility We support the children with this condition and the families that love them. MedlinePlus also links to health information from non-government Web sites. What is a gene variant and how do variants occur? Molecular genetic testing is recommended for the parents of the proband to confirm their genetic status and to allow reliable recurrence risk counseling. An official website of the United States government. Mowat-Wilson syndrome is associated with: a heterozygous pathogenic variant involving ZEB2 (in ~84% of affected individuals), a heterozygous deletion of 2q22.3 involving ZEB2 (~15% of affected individuals), or a chromosome rearrangement that disrupts ZEB2 (~1% of individuals). Standard treatment is recommended for orthopedic, dental, cardiac, urogenital, ophthalmologic, constipation, and other medical issues. U.S. Department of Health and Human Services, dual specificity tyrosine-(Y)-phosphorylation regulated kinase 1A. Microcephaly in DYRK1A syndrome appears more severe than in Angelman syndrome [Courcet et al 2012]. 2016 Jan;21(1):126-32. doi: 10.1038/mp.2015.5. Social work involvement for parental support. Expressivity is similar in males and females [van Bon et al 2016]. -. ", One thing I would say is reach out, Find support. avenue 5 residential rental criteria; $5,000 in 1970 is worth how much today. Gene-targeted deletion/duplication analysis detects intragenic deletions or duplications. Please use your credentials for logged-in to your account: Please enter your email id for recover password. People with DYRK1A syndrome may also be more likely to have sensory processing disorder or be on the autism spectrum. Cell Rep. 2013;3:13061320. When Jaxson was diagnosed in 2018, the genetics team in Birmingham, Alabama were only able to provide us with a print off of what they could find on Google. cases further delineate the syndromic intellectual disability phenotype caused by DYRK1A.org Disorders with Multiple Findings Suggestive of DYRK1A Syndrome. Akey JM, Bernier R, Eichler EE, Shendure J. Multiplex targeted sequencing risk assessment and the use of family history and genetic testing to clarify genetic ED. JM, Borenstein E, Rieder MJ, Nickerson DA, Bernier R, Shendure J, Eichler EE. Symptoms may include i. eonatal feeding issues, hypertonia, hypotonia, abnormal gait, foot abnormalities and eye problems. whenever the material is published elsewhere on the Web; and (iii) reproducers, Children may qualify for and benefit from interventions used in treatment of autism spectrum disorder, including applied behavior analysis (ABA). In 2021, an American was expected to live 76.1 years, which is down 2.8 years from the 2014 . 2016 Nov 8;7:13316. doi: 10.1038/ncomms13316. During infancy and childhood facial features include prominent ears, deep-set eyes, mild upslanted palpebral fissures, a short nose with a broad nasal tip, and retrognathia with a broad chin. use. Truncation of the Down syndrome candidate gene DYRK1A in two unrelated patients with microcephaly. professional. Autism spectrum disorders, stereotypies, anxious behavior, hyperactivity, and sleep disturbances (difficulty falling asleep, awakening at night) have been observed [van Bon et al 2016, Earl et al 2017]. Remaining Life Expectancy at Age X Based on Static And Life expectancy at birth in the UK in 2018 to 2020 was 79.0 years for males and 82.9 years for females; this represents a fall of 7.0 weeks for males and almost no change for females (a slight. No clinical practice guidelines for DYRK1A syndrome have been published. We support the children with this condition and the families that love them. Contact a health care provider if you have questions about your health. noncommercial research purposes only, provided that (i) credit for source (http://www.genereviews.org/) and copyright ( 1993-2023 University of This member contains a nuclear targeting signal sequence, a protein kinase domain, a leucine zipper motif, and a highly conservative 13-consecutive- histidine repeat. identifies recurrently mutated genes in autism spectrum disorders. Smith ACM, Boyd KE, Brennan C, Charles J, Elsea SH, Finucane BM, Foster R, Gropman A, Girirajan S, Haas-Givler B. It catalyzes its autophosphorylation on serine / threonine and tyrosine residues. No genotype-phenotype correlations have been identified. It may play a significant role in a signaling pathway regulating cell proliferation and may be involved in brain development. See Molecular Genetics for information on allelic variants detected in this gene.