Identification of a missense variant in the WFS1 gene that causes a mild form of Wolfram syndrome and is associated with risk for type 2 diabetes in Ashkenazi Jewish individuals

• المؤلفون الرئيسيون: Bansal, Vikas, Boehm, Bernhard O., Darvasi, Ariel
• مؤلفون آخرون: Lee Kong Chian School of Medicine (LKCMedicine)
• التنسيق: مقال
• اللغة: English
• منشور في: 2020
• الموضوعات: Science::Medicine; Ashkenazi Jewish; Carrier Screening
• الوصول للمادة أونلاين: https://hdl.handle.net/10356/137250
• المؤسسة: Nanyang Technological University

Aims/hypothesis Wolfram syndrome is a rare, autosomal recessive syndrome characterised by juvenile-onset diabetes and opticatrophy and is caused by bi-allelic mutations in the WFS1 gene. In a recent sequencing study, an individual with juvenile-onset diabetes was observed to be homozygous for a rare...