Title: Delineation of Cohen syndrome following a large-scale genotype-phenotype screen
Authors: Kolehmainen, Juha ×
Wilkinson, Robert
Lehesjoki, Anna-Elina
Chandler, Kate
Kivitie-Kallio, Satu
Clayton-Smith, Jill
Träskelin, Ann-Liz
Waris, Laura
Saarinen, Anne
Khan, Jabbar
Gross-Tsur, Varda
Traboulsi, Elias I
Warburg, Mette
Fryns, Jean-Pierre
Norio, Reijo
Black, Graeme C M
Manson, Forbes D C #
Issue Date: May-2004
Series Title: American Journal of Human Genetics vol:75 issue:1 pages:122-7
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.
ISSN: 0002-9297
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Clinical Genetics Section (-)
Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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