Delineation of Cohen syndrome following a large-scale genotype-phenotype screen

Juha Kolehmainen, Robert Wilkinson, Anna Elina Lehesjoki, Kate Chandler, Satu Kivitie-Kallio, Jill Clayton-Smith, Ann Liz Träskelin, Laura Waris, Anne Saarinen, Jabbar Khan, Varda Gross-Tsur, Elias I. Traboulsi, Mette Warburg, Jean Pierre Fryns, Reijo Norio, Graeme C M Black, Forbes D C Manson

    Research output: Contribution to journalArticlepeer-review


    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.
    Original languageEnglish
    Pages (from-to)122-127
    Number of pages5
    JournalAmerican Journal of Human Genetics
    Issue number1
    Publication statusPublished - Jul 2004


    • diagnosis: Abnormalities, Multiple
    • Child
    • Cohort Studies
    • genetics: Craniofacial Abnormalities
    • genetics: Developmental Disabilities
    • Family
    • Female
    • Genotype
    • Humans
    • Male
    • Mass Screening
    • genetics: Membrane Proteins
    • genetics: Mental Retardation
    • genetics: Microcephaly
    • genetics: Mutation
    • 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


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