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Article

Functional Analysis of a Compound Heterozygous Mutation in the VPS13B Gene in a Chinese Pedigree with Cohen Syndrome.

Journal of molecular neuroscience : MN - 1 May 2021

Lou Guiyu, Ke Yang, Zhang Yuwei, Liangjie Guo, Shama Samaa Abdelmonem, Qi Na, Qin Litao, Liao Shixiu, Zhao Yuanyin

Abstract excerpt

Cohen syndrome (CS) is an autosomal recessive congenital disorder characterized by mutation in the vacuolar protein sorting 13 homolog B (VPS13B; formerly COH1) gene. In the current study, a Chinese family has two young sibling cases having a developmental delay, physical obesity, high myopia, and a special face, which suspected to be CS. The purpose of the study was to identify variants and further analyze their...

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PMID: 33025479
DOI: 10.1007/s12031-020-01713-6

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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