Wolfram syndrome: Identification of a phenotypic and genotypic variant from Jordan

Kamel Ajlouni, Nadim Jarrah, Mohammed El-Khateeb, Mohamed El-Zaheri, Hatem El Shanti, Andrew Lidral

    Research output: Contribution to journalReview article

    23 Citations (Scopus)

    Abstract

    Wolfram syndrome is an autosomal recessive disorder with probable locus heterogeneity. Only insulin-dependent diabetes mellitus and progressive optic-nerve atrophy are necessary to make the diagnosis, but associated findings include diabetes insipidus, sensorineural hearing loss, ataxia, peripheral neuropathy, urinary-tract atony, and psychiatric illnesses. We performed clinical and molecular studies on four consanguineous families with 16 affected individuals. We point out a new phenotypic variant with absent diabetes insipidus, presence of peptic ulcer disease and bleeding tendency secondary to a platelet aggregation defect. The same phenotypic variant turned out to be a genotypic variant with linkage to a second Wolfram syndrome locus (WFS2) on chromosome 4q22-24.

    Original languageEnglish
    Pages (from-to)61-65
    Number of pages5
    JournalAmerican Journal of Medical Genetics - Seminars in Medical Genetics
    Volume115
    Issue number1
    DOIs
    Publication statusPublished - 27 Jun 2002

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    Keywords

    • Bleeding tendency
    • Diabetes mellitus
    • Peptic ulcer disease
    • Wolfram syndrome

    ASJC Scopus subject areas

    • Genetics
    • Genetics(clinical)

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