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Only insulin\u2010dependent diabetes mellitus and progressive optic\u2010nerve atrophy are necessary to make the diagnosis, but associated findings include diabetes insipidus, sensorineural hearing loss, ataxia, peripheral neuropathy, urinary\u2010tract 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\u201324. \u00a9 2002 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.10345","type":"journal-article","created":{"date-parts":[[2002,10,6]],"date-time":"2002-10-06T12:43:37Z","timestamp":1033908217000},"page":"61-65","source":"Crossref","is-referenced-by-count":29,"title":["Wolfram syndrome: Identification of a phenotypic and genotypic variant from 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