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 journalArticle

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 - 2002
Externally publishedYes

Fingerprint

Wolfram Syndrome
Jordan
Diabetes Insipidus
Optic Atrophy
Sensorineural Hearing Loss
Peripheral Nervous System Diseases
Ataxia
Optic Nerve
Peptic Ulcer
Urinary Tract
Type 1 Diabetes Mellitus
Platelet Aggregation
Psychiatry
Chromosomes
Hemorrhage

Keywords

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

ASJC Scopus subject areas

  • Genetics(clinical)
  • Neuropsychology and Physiological Psychology
  • Neuroscience(all)

Cite this

Wolfram syndrome : Identification of a phenotypic and genotypic variant from Jordan. / Ajlouni, Kamel; Jarrah, Nadim; El-Khateeb, Mohammed; El-Zaheri, Mohamed; El Shanti, Hatem; Lidral, Andrew.

In: American Journal of Medical Genetics - Seminars in Medical Genetics, Vol. 115, No. 1, 2002, p. 61-65.

Research output: Contribution to journalArticle

Ajlouni, Kamel ; Jarrah, Nadim ; El-Khateeb, Mohammed ; El-Zaheri, Mohamed ; El Shanti, Hatem ; Lidral, Andrew. / Wolfram syndrome : Identification of a phenotypic and genotypic variant from Jordan. In: American Journal of Medical Genetics - Seminars in Medical Genetics. 2002 ; Vol. 115, No. 1. pp. 61-65.
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