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Article

A Novel VPS13B Mutation Identified by Whole-Exome Sequencing in Iranian Patients with Cohen Syndrome.

Journal of molecular neuroscience : MN - 1 Dec 2021

Karimzadeh Mohammad Reza, Omidi Fatemeh, Sahebalzamani Afsaneh, Saeidi Kolsoum

Abstract excerpt

Cohen syndrome is caused by homozygous mutation in the vacuolar protein sorting 13 homolog B (VPS13B, also referred to as COH1) gene on chromosome 8q22.2. The VPS13B protein is involved in transmembrane transport, Golgi integrity, and neuritogenesis. Clinical manifestations of Cohen syndrome are mainly intellectual disability, developmental delay, facial abnormalities, and eye disorders. This study aimed to...

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Identifiers

PMID: 34041686
DOI: 10.1007/s12031-021-01852-4

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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