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
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
The contribution of de novo coding mutations to autism spectrum disorder
A de novo CSDE1 variant causing neurodevelopmental delay, intellectual disability, neurologic and psychiatric symptoms in a child of consanguineous parents
