Journal article
Wolfram syndrome: identification of a phenotypic and genotypic variant from Jordan
American journal of medical genetics, Vol.115(1), pp.61-65
05/30/2002
DOI: 10.1002/ajmg.10345
PMID: 12116178
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.
Details
- Title: Subtitle
- Wolfram syndrome: identification of a phenotypic and genotypic variant from Jordan
- Creators
- Kamel Ajlouni - National Center for Diabetes, Endocrinology and Genetics, University of Jordan, Amman. ajlouni@ju.edu.joNadim JarrahMohammed El-KhateebMohamed El-ZaheriHatem El ShantiAndrew Lidral
- Resource Type
- Journal article
- Publication Details
- American journal of medical genetics, Vol.115(1), pp.61-65
- DOI
- 10.1002/ajmg.10345
- PMID
- 12116178
- NLM abbreviation
- Am J Med Genet
- ISSN
- 0148-7299
- eISSN
- 1096-8628
- Publisher
- Wiley
- Language
- English
- Date published
- 05/30/2002
- Academic Unit
- Stead Family Department of Pediatrics; Medical Genetics and Genomics
- Record Identifier
- 9984093375302771
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