Wolfram syndrome: identification of a phenotypic and genotypic variant from Jordan.
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.
Ajlouni
Kamel
K
National Center for Diabetes, Endocrinology and Genetics, University of Jordan, Amman. ajlouni@ju.edu.jo
Jarrah
Nadim
N
El-Khateeb
Mohammed
M
El-Zaheri
Mohamed
M
El Shanti
Hatem
H
Lidral
Andrew
A
D000293:Adolescent; D000328:Adult; D002648:Child; D002874:Chromosome Mapping; D002894:Chromosomes, Human, Pair 4; D014644:Genetic Variation; D005838:Genotype; D006801:Humans; D007597:Jordan; D010437:Peptic Ulcer / Q000235:genetics / Q000473:pathology; D010641:Phenotype; D014570:Urologic Diseases / Q000235:genetics / Q000473:pathology; D014929:Wolfram Syndrome / Q000235:genetics* / Q000473:pathology