Journal List > Endocrinol Metab > v.25(2) > 1085814

Choi, Bae, Kim, Kim, Hur, Lim, Hong, and Chung: A Case of Wolfram Like Disorder with Type 2 Diabetes Mellitus in an Adult

Abstract

Wolfram-like disorder is one of the WFS1-related disorders that are caused by mutation of the WFS1 genes. WFS1-related disorders are classified as Wolfram syndrome, Wolfram like disorder and nonsyndromic low-frequency sensorineural hearing loss (DFNA6/14/38). Wolfram syndrome is known to DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy and deafness), and it is an autosomal-recessive disorder that predisposes a patient to developing type 1 diabetes in association with progressive optic atrophy, and the disease shows various phenotypes. Wolfram like disorder is an autosomal-dominant disorder that predisposes a patient to develop type 2 diabetes in association with optic atrophy and hearing impairment. We experienced a case of Wolfram like disorder with diabetes, optic atrophy and sensorineural hearing loss in a 28-year-old woman who was admitted to our hospital. Our case demonstrated the E737K missense mutation on the WFS1 gene, which has been previously reported in the medical literature. The diagnosis of WFS1-related disorder was confirmed by the clinical features and molecular genetic testing of the WFS1 gene.

Figures and Tables

Fig. 1
Pedigree of the family, arrow indicates patients.
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Fig. 2
Result of direct sequencing of genomic DNA in WFS1 gene of our patient, direct sequencing reveals G to L mutation at nucleotide 2209 in 737 codon.
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