Abstract:
BACKGROUND:Wolfram's syndrome (WFS) is a hereditary (autosomal recessive) neurodegenerative disorder. The clinical features are related to diabetes insipidus, diabetes mellitus, optic atrophy, and deafness (DIDMOAD) with other variable clinical manifestations. Pathogenic variants in the WFS1 gene, encoding wolframin, are known to be the main cause of Wolfram's syndrome. In this study, we present the clinical and genetic characteristics of two WFS patients from an Iranian family. METHODS:The mutation screening was performed by polymerase chain reaction (PCR) followed by direct Sanger sequencing of all exons from two affected WFS. RESULTS:The complete Sanger sequencing of the WFS1 gene detected a homozygous missense variant, c.2207G>A (p.Gly736Asp), in the eighth exon of the WFS1 gene. Both cases developed all the major symptoms of the disease, interestingly, except hearing loss. CONCLUSIONS:Because of the rarity and clinical heterogeneity of WFS, the molecular genetic assay is essential to confirm the diagnosis and management of the WFS patients.
journal_name
J Clin Lab Analjournal_title
Journal of clinical laboratory analysisauthors
Torkamandi S,Rezaei S,Mirfakhraie R,Bayat S,Piltan S,Gholami Mdoi
10.1002/jcla.23358subject
Has Abstractpub_date
2020-08-01 00:00:00pages
e23358issue
8eissn
0887-8013issn
1098-2825journal_volume
34pub_type
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