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Cohen syndrome (COH1)

Genes

  • Vacuolar protein sorting 13 homolog b (VPS13B)

Summary

Cohen syndrome (COH1) is an autosomal recessive disorder whose main clinical features are psychomotor retardation and microcephaly, a progressing retinochoroidal dystrophy, intermittent neutropenia, a cheerful disposition, and characteristic structural features. The locus for the syndrome has been assigned to chromosome 8q22-q23 in Finnish Cohen families, using linkage disequilibrium and haplotype analysis and a novel gene, VPS13B (COH1), was found to be mutated. VPS13B encodes a Golgi-associated matrix protein that is required for Golgi integrity. It is assumed that Golgi dysfunction may contribute to Cohen syndrome pathology. Clinical diagnosis of Cohen syndrome can be confirmed by genetic test.

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UMLS Concept names

Selected publications

  • Cohen syndrome is caused by mutations in a novel gene, COH1, encoding a transmembrane protein with a presumed role in vesicle-mediated sorting and intracellular protein transport. (Pubmed)
  • Kolehmainen J1, Black GC, Saarinen A, Chandler K, Clayton-Smith J, Träskelin AL, Perveen R, Kivitie-Kallio S, Norio R, Warburg M, Fryns JP, de la Chapelle A, Lehesjoki AE. PMID:12730828 (Pubmed)