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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.

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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.

Bibliographic metadata

Type of resource:
Content type:
Publication type:
Publication form:
Published date:
Journal title:
ISSN:
Place of publication:
United States
Volume:
75
Issue:
1
Start page:
122
End page:
127
Pagination:
122-127
Digital Object Identifier:
10.1086/422197
Access state:
Active

Institutional metadata

University researcher(s):

Record metadata

Manchester eScholar ID:
uk-ac-man-scw:1d10677
Created:
29th August, 2009, 15:42:02
Last modified:
15th April, 2014, 13:03:03

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