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

Maha Sherif Hüseyin Demirbilek Atilla Çayır Sophia Tahir Busranur Erozan Cavdarli Meliha Demiral Ayse Nurcan Cebeci Dogus Vuralli Sofia Asim Rahman Edip Unal Gönül Büyükyılmaz Rıza Taner Baran Mehmet Nuri Özbek Khalid Hussain

Published in: Journal of clinical research in pediatric endocrinology (2020)

Our study expands the mutation spectrum of WSF1 mutations with three novel mutations. Homozygosity mapping may provide enrichment for molecular genetic analysis and early diagnosis of WS1 patients with incomplete phenotype, particularly in consanguineous pedigrees.

Keyphrases

high resolution
high density
copy number
gene expression
mass spectrometry
genome wide identification
transcription factor