Exome Sequencing of Two Siblings with Sporadic Autism Spectrum Disorder and Severe Speech Sound Disorder Suggests Pleiotropic and Complex Effects
作者： Beate Peter , Valentin Dinu , Li Liu , Matthew Huentelman , Marcus Naymik
DOI: 10.1007/S10519-019-09957-8
关键词: Genetics 、 Speech sound disorder 、 Biology 、 Compound heterozygosity 、 Candidate gene 、 WWOX 、 Comorbidity 、 Childhood apraxia of speech 、 Autism spectrum disorder 、 Exome sequencing
摘要: Recent studies of autism spectrum disorder (ASD) and childhood apraxia speech (CAS) have resulted in conflicting conclusions regarding the comorbidity these disorders on phenotypic grounds. In a nuclear family with two dually affected one unaffected offspring, whole-exome sequences were evaluated for single nucleotide indel variants CNVs. The siblings but not sibling share rare deleterious compound heterozygous mutation WWOX, implicated both ASD motor control. addition, children carries de novo candidate gene RIMS1. their inherited relevance and/or CAS. RIMS1, several genes harboring are expressed brain during prenatal early postnatal development. Results suggest heterozygosity as cause CAS, pleiotropic effects, potentially additional, complex genetic effects.
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