Document Detail

Allelic heterogeneity in the COH1 gene explains clinical variability in Cohen syndrome.
MedLine Citation:
PMID:  15154116     Owner:  NLM     Status:  MEDLINE    
Cohen syndrome is a rare autosomal recessive disorder with a variable clinical picture mainly characterized by developmental delay, mental retardation, microcephaly, typical facial dysmorphism, progressive pigmentary retinopathy, severe myopia, and intermittent neutropenia. A Cohen syndrome locus was mapped to chromosome 8q22 in Finnish patients, and, recently, mutations in the gene COH1 were reported in patients with Cohen syndrome from Finland and other parts of northern and western Europe. Here, we describe clinical and molecular findings in 20 patients with Cohen syndrome from 12 families, originating from Brazil, Germany, Lebanon, Oman, Poland, and Turkey. All patients were homozygous or compound heterozygous for mutations in COH1. We identified a total of 17 novel mutations, mostly resulting in premature termination codons. The clinical presentation was highly variable. Developmental delay of varying degree, early-onset myopia, joint laxity, and facial dysmorphism were the only features present in all patients; however, retinopathy at school age, microcephaly, and neutropenia are not requisite symptoms of Cohen syndrome. The identification of novel mutations in COH1 in an ethnically diverse group of patients demonstrates extensive allelic heterogeneity and explains the intriguing clinical variability in Cohen syndrome.
Hans Christian Hennies; Anita Rauch; Wenke Seifert; Christian Schumi; Elisabeth Moser; Eva Al-Taji; Gholamali Tariverdian; Krystyna H Chrzanowska; Malgorzata Krajewska-Walasek; Anna Rajab; Roberto Giugliani; Thomas E Neumann; Katja M Eckl; Mohsen Karbasiyan; André Reis; Denise Horn
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't     Date:  2004-05-20
Journal Detail:
Title:  American journal of human genetics     Volume:  75     ISSN:  0002-9297     ISO Abbreviation:  Am. J. Hum. Genet.     Publication Date:  2004 Jul 
Date Detail:
Created Date:  2004-05-27     Completed Date:  2004-07-20     Revised Date:  2009-11-18    
Medline Journal Info:
Nlm Unique ID:  0370475     Medline TA:  Am J Hum Genet     Country:  United States    
Other Details:
Languages:  eng     Pagination:  138-45     Citation Subset:  IM    
Gene Mapping Centre and Department of Molecular Genetics, Max Delbrück Centre for Molecular Medicine, Berlin, Germany.
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MeSH Terms
Abnormalities, Multiple / ethnology,  genetics*,  pathology
Child, Preschool
Chromosomes, Human, Pair 8 / genetics*
Craniofacial Abnormalities / ethnology,  genetics,  pathology
Developmental Disabilities / ethnology,  genetics,  pathology
Gene Frequency
Genetic Variation*
Membrane Proteins / genetics*
Mental Retardation / ethnology,  genetics,  pathology
Microcephaly / ethnology,  genetics,  pathology
Microsatellite Repeats
Mutation / genetics*
Vesicular Transport Proteins
Reg. No./Substance:
0/Membrane Proteins; 0/VPS13B protein, human; 0/Vesicular Transport Proteins

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