Aliases: D1S155E, UNR
Chromosome No: 1
Chromosome Band: 1p13.2
Genetic Category: Rare single gene variant-Syndromic-Functional
ASD Reports: 8
Recent Reports: 2
Annotated variants: 32
Associated CNVs: 4
Evidence score: 4
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Relevance to Autism
A de novo nonsense variant in the CSDE1 gene was identified in an ASD proband from the Simons Simplex Collection (SSC; Iossifov et al., 2014). Guo et al., 2019 initially targeted the coding region of the CSDE1 gene using a modified single-molecule molecular inversion probe approach among 4,045 ASD probands from the Autism Clinical and Genetic Resources in China (ACGC) cohort and identified de novo likely gene-disruptive variants in three simplex families. Analysis of the SSC proband, the three ACGC probands, and thirteen additional individuals with likely gene-disruptive variants in CSDE1 identified a new neurodevelopmental syndrome characterized by ASD (a formal diagnosis was made in 10/15 evaluated individuals), intellectual disability, language and motor delay, seizures, MRI brain abnormalities, seizures, macrocephaly, behavioral problems (including ADHD and anxiety), and eye abnormalities.
Molecular Function
RNA-binding protein. Required for internal initiation of translation of human rhinovirus RNA. May be involved in translationally coupled mRNA turnover. Implicated with other RNA-binding proteins in the cytoplasmic deadenylation/translational and decay interplay of the FOS mRNA mediated by the major coding-region determinant of instability (mCRD) domain.
External Links
