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.

[cohen syndrome]

Cohen syndrome is an uncommon autosomal recessive disorder whose diagnosis is based on the clinical picture of nonprogressive psychomotor retardation and microcephaly , characteristic facial features , retinal dystrophy , and intermittent neutropenia . We have refined the critical region on chromosome 8 q 22 by haplotype analysis , and we report the characterization of a novel gene , COH 1 , that is mutated in patients with Cohen syndrome . The longest transcript (14 ,093 bp ) is widely expressed and is transcribed from 62 exons that span a genomic region of approximately 864 kb . COH 1 encodes a putative transmembrane protein of 4 ,022 amino acids , with a complex domain structure . Homology to the Saccharomyces cerevisiae VPS 13 protein suggests a role for COH 1 in vesicle-mediated sorting and transport of proteins within the cell .