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Article

A de novo CSDE1 variant causing neurodevelopmental delay, intellectual disability, neurologic and psychiatric symptoms in a child of consanguineous parents.

American journal of medical genetics. Part A - 1 Jan 2022

Gangfuß Andrea, Lochmüller Hanns, Töpf Ana, O'Heir Emily, Horvath Rita, Kölbel Heike, Schweiger Bernd, Schara-Schmidt Ulrike, Roos Andreas

Abstract excerpt

CSDE1 encodes the cytoplasmic cold shock domain-containing protein E1 (CSDE1), which is highly conserved across species and functions as an RNA-binding protein involved in translationally coupled mRNA turnover. CSDE1 displays a bidirectional role: promoting and repressing the translation of RNAs but also increasing and decreasing the abundance of RNAs. Preclinical studies highlighted an involvement of CSDE1 in...

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PMID: 34519148
DOI: 10.1002/ajmg.a.62494

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