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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 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... Full description

Journal Title: American journal of human genetics 2003, Vol.72 (6), p.1359-1369
Main Author: Kolehmainen, Juha
Other Authors: Black, Graeme C.M , Saarinen, Anne , Chandler, Kate , Clayton-Smith, Jill , Träskelin, Ann-Liz , Perveen, Rahat , Kivitie-Kallio, Satu , Norio, Reijo , Warburg, Mette , Fryns, Jean-Pierre , Chapelle, Albert de la , Lehesjoki, Anna-Elina
Format: Electronic Article Electronic Article
Language: English
Subjects:
Quelle: Alma/SFX Local Collection
Publisher: Chicago, IL: Elsevier Inc
ID: ISSN: 0002-9297
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title: 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
format: Article
creator:
  • Kolehmainen, Juha
  • Black, Graeme C.M
  • Saarinen, Anne
  • Chandler, Kate
  • Clayton-Smith, Jill
  • Träskelin, Ann-Liz
  • Perveen, Rahat
  • Kivitie-Kallio, Satu
  • Norio, Reijo
  • Warburg, Mette
  • Fryns, Jean-Pierre
  • Chapelle, Albert de la
  • Lehesjoki, Anna-Elina
subjects:
  • Abnormalities, Multiple - genetics
  • Abnormalities, Multiple - pathology
  • Adult
  • Articles
  • Biological and medical sciences
  • Child
  • Chromosomes, Human, Pair 8
  • Cohort Studies
  • Complex syndromes
  • Craniofacial Abnormalities - genetics
  • Craniofacial Abnormalities - pathology
  • Developmental Disabilities - genetics
  • Developmental Disabilities - pathology
  • Female
  • Finns
  • Gene mutations
  • Genetic disorders
  • Genetics
  • Genetics(clinical)
  • Health aspects
  • Humans
  • Intellectual Disability - genetics
  • Intellectual Disability - pathology
  • Male
  • Medical genetics
  • Medical sciences
  • Membrane Proteins - genetics
  • Microcephaly - genetics
  • Microcephaly - pathology
  • Molecular Sequence Data
  • Mutation
  • Physiological aspects
  • Sequence Homology, Amino Acid
  • Syndrome
  • Vesicular Transport Proteins
ispartof: American journal of human genetics, 2003, Vol.72 (6), p.1359-1369
description: 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 ∼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.
language: eng
source: Alma/SFX Local Collection
identifier: ISSN: 0002-9297
fulltext: fulltext
issn:
  • 0002-9297
  • 1537-6605
url: Link


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titleCohen 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
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creatorKolehmainen, Juha ; Black, Graeme C.M ; Saarinen, Anne ; Chandler, Kate ; Clayton-Smith, Jill ; Träskelin, Ann-Liz ; Perveen, Rahat ; Kivitie-Kallio, Satu ; Norio, Reijo ; Warburg, Mette ; Fryns, Jean-Pierre ; Chapelle, Albert de la ; Lehesjoki, Anna-Elina
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descriptionCohen 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 ∼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.
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subjectAbnormalities, Multiple - genetics ; Abnormalities, Multiple - pathology ; Adult ; Articles ; Biological and medical sciences ; Child ; Chromosomes, Human, Pair 8 ; Cohort Studies ; Complex syndromes ; Craniofacial Abnormalities - genetics ; Craniofacial Abnormalities - pathology ; Developmental Disabilities - genetics ; Developmental Disabilities - pathology ; Female ; Finns ; Gene mutations ; Genetic disorders ; Genetics ; Genetics(clinical) ; Health aspects ; Humans ; Intellectual Disability - genetics ; Intellectual Disability - pathology ; Male ; Medical genetics ; Medical sciences ; Membrane Proteins - genetics ; Microcephaly - genetics ; Microcephaly - pathology ; Molecular Sequence Data ; Mutation ; Physiological aspects ; Sequence Homology, Amino Acid ; Syndrome ; Vesicular Transport Proteins
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descriptionCohen 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 ∼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.
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11Developmental Disabilities - genetics
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15Gene mutations
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17Genetics
18Genetics(clinical)
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21Intellectual Disability - genetics
22Intellectual Disability - pathology
23Male
24Medical genetics
25Medical sciences
26Membrane Proteins - genetics
27Microcephaly - genetics
28Microcephaly - pathology
29Molecular Sequence Data
30Mutation
31Physiological aspects
32Sequence Homology, Amino Acid
33Syndrome
34Vesicular Transport Proteins
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titleCohen 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
authorKolehmainen, Juha ; Black, Graeme C.M ; Saarinen, Anne ; Chandler, Kate ; Clayton-Smith, Jill ; Träskelin, Ann-Liz ; Perveen, Rahat ; Kivitie-Kallio, Satu ; Norio, Reijo ; Warburg, Mette ; Fryns, Jean-Pierre ; Chapelle, Albert de la ; Lehesjoki, Anna-Elina
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7Cohort Studies
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11Developmental Disabilities - genetics
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abstractCohen 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 ∼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.
copChicago, IL
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pmid12730828
doi10.1086/375454
oafree_for_read