Identification of Three Novel and One Known Mutation in the WFS1 Gene in Four Unrelated Turkish Families: The Role of Homozygosity Mapping in the Early Diagnosis

Identification of Three Novel and One Known Mutation in the WFS1 Gene in Four Unrelated Turkish Families: The Role of Homozygosity Mapping in the Early Diagnosis

Objective:Bi-allelic mutations in the wolframin gene (WFS1) cause Wolfram syndrome 1 (WS1 or DIDMOAD) characterized by non-autoimmune diabetes mellitus, optic atrophy, diabetes insipidus, sensorineural deafness, urinary tract abnormalities, and neuropsychiatric disorders. Patients presenting with an...

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Bibliographic Details
Main Authors: Maha Sherif, Hüseyin Demirbilek, Atilla Çayır, Sophia Tahir, Büşra Çavdarlı, Meliha Demiral, Ayşe Nurcan Cebeci, Doğuş Vurallı, Sofia Asim Rahman, Edip Unal, Gönül Büyükyılmaz, Riza Taner Baran, Mehmet Nuri Özbek, Khalid Hussain
Format: Article
Language:English
Published: Galenos Yayincilik 2021-03-01
Series:JCRPE
Subjects:
wolfram syndrome
wfs1
diabetes mellitus
diabetes insipidus
optic atrophy
sensorineural deafness
Online Access: http://www.jcrpe.org/archives/archive-detail/article-preview/dentification-of-three-novel-and-one-known-mutatio/40190

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http://www.jcrpe.org/archives/archive-detail/article-preview/dentification-of-three-novel-and-one-known-mutatio/40190

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