Abstract
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 8q22 by haplotype analysis, and we report the characterization of a novel gene, COH1, 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. COH1 encodes a putative transmembrane protein of 4,022 amino acids, with a complex domain structure. Homology to the Saccharomyces cerevisiae VPS13 protein suggests a role for COH1 in vesicle-mediated sorting and transport of proteins within the cell.
Publication types
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Research Support, Non-U.S. Gov't
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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Abnormalities, Multiple / genetics*
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Abnormalities, Multiple / pathology
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Adult
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Child
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Chromosomes, Human, Pair 8
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Cohort Studies
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Craniofacial Abnormalities / genetics
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Craniofacial Abnormalities / pathology
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Developmental Disabilities / genetics
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Developmental Disabilities / pathology
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Female
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Humans
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Intellectual Disability / genetics
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Intellectual Disability / pathology
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Male
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Membrane Proteins / genetics
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Microcephaly / genetics
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Microcephaly / pathology
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Molecular Sequence Data
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Mutation*
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Sequence Homology, Amino Acid
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Syndrome
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Vesicular Transport Proteins
Substances
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Membrane Proteins
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VPS13B protein, human
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Vesicular Transport Proteins
Associated data
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GENBANK/AB029316
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GENBANK/AK009750
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GENBANK/AY223814
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GENBANK/AY223815
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GENBANK/AY223816
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GENBANK/AY223817
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GENBANK/AY223818
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GENBANK/Q07878