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

• Main Authors: Maha Sherif (Author), Hüseyin Demirbilek (Author), Atilla Çayır (Author), Sophia Tahir (Author), Büşra Çavdarlı (Author), Meliha Demiral (Author), Ayşe Nurcan Cebeci (Author), Doğuş Vurallı (Author), Sofia Asim Rahman (Author), Edip Unal (Author), Gönül Büyükyılmaz (Author), Riza Taner Baran (Author), Mehmet Nuri Özbek (Author), Khalid Hussain (Author)
• Format: Book
• Published: Galenos Yayincilik, 2021-03-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...