Variable Expressivity of Wolfram Syndrome in a Family with Multiple Affected Subjects.

ABSTRACT:

Purpose

To study the genetic basis and clinical manifestations of Wolfram syndrome in a multi-affected family.

Methods

Complete clinical examinations including urological, ophthalmic, neurological, and endocrinologic assessment were performed for three affected family members. Genomic DNA was extracted from peripheral blood leukocytes with salting out method and all WFS1 exons and their flanking regions were sequenced. Candidate variation was screened for segregation in the pedigree by Sanger sequencing.

Results

A known pathogenic missense mutation in WFS1 gene (c.1885C > T which leads to p.Arg629Trp in the encoded protein) was identified in all affected individuals. Both clinical and genetic investigations confirmed Wolfram syndrome diagnosis with varia

SUBMITTER: Mirrahimi M 

PROVIDER: S-EPMC8593543 | biostudies-literature | 2021 Oct-Dec

REPOSITORIES: biostudies-literature