Related resources
Full-text held externally
- DOI: 10.1086/422197
Search for item elsewhere
University researcher(s)
Academic department(s)
Delineation of Cohen syndrome following a large-scale genotype-phenotype screen
Kolehmainen J, Wilkinson R, Lehesjoki A, Chandler K, Kivitie-Kallio S, Clayton-Smith J, Träskelin A, Waris L, Saarinen A, Khan J, Gross-Tsur V, Traboulsi E, Warburg M, Fryns J, Norio R, Black GCM, Manson FDC
Am J Hum Genet. 2004;75(1):122-127.
Access to files
Full-text and supplementary files are not available from Manchester eScholar. Full-text is available externally using the following links:
Full-text held externally
- DOI: 10.1086/422197
Abstract
Cohen syndrome is an autosomal recessive condition associated with developmental delay, facial dysmorphism, pigmentary retinopathy, and neutropenia. The pleiotropic phenotype, combined with insufficient clinical data, often leads to an erroneous diagnosis and has led to confusion in the literature. Here, we report the results of a comprehensive genotype-phenotype study on the largest cohort of patients with Cohen syndrome assembled to date. We found 22 different COH1 mutations, of which 19 are novel, in probands identified by our diagnostic criteria. In addition, we identified another three novel mutations in patients with incomplete clinical data. By contrast, no COH1 mutations were found in patients with a provisional diagnosis of Cohen syndrome who did not fulfill the diagnostic criteria ("Cohen-like" syndrome). This study provides a molecular confirmation of the clinical phenotype associated with Cohen syndrome and provides a basis for laboratory screening that will be valuable in its diagnosis.
Keyword(s)
Child; Cohort Studies; Family; Female; Genotype; Humans; Male; Mass Screening; Phenotype; Polymerase Chain Reaction; Polymorphism, Single-Stranded Conformational; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.; Syndrome; diagnosis: Abnormalities, Multiple; genetics: Craniofacial Abnormalities; genetics: Developmental Disabilities; genetics: Membrane Proteins; genetics: Mental Retardation; genetics: Microcephaly; genetics: Mutation