Identification of Three Novel and One Known Mutation in the <i>WFS1</i> Gene in Four Unrelated Turkish Families; the Role of Homozygosity Mapping in the Early Diagnosis.

Sherif, M; Demirbilek, HÜSEYİN; Cayir, A; Tahir, S; Cavdarli, B; Demiral, M; Cebeci, AN; Vuralli, D; Rahman, SA; Unal, E; Buyukyilmaz, G; Baran, RT; Ozbek, MN; Hussain, K

doi:10.4274/jcrpe.galenos.2020.2020.0152

Identification of Three Novel and One Known Mutation in the <i>WFS1</i> Gene in Four Unrelated Turkish Families; the Role of Homozygosity Mapping in the Early Diagnosis.

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Sherif M., Demirbilek H., Cayir A., Tahir S., Cavdarli B., Demiral M., ...More

Journal of clinical research in pediatric endocrinology, vol.13, pp.34-43, 2021 (SCI-Expanded)

Publication Type: Article / Article
Volume: 13
Publication Date: 2021
Doi Number: 10.4274/jcrpe.galenos.2020.2020.0152
Journal Name: Journal of clinical research in pediatric endocrinology
Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, CINAHL, EMBASE, MEDLINE, Directory of Open Access Journals, TR DİZİN (ULAKBİM)
Page Numbers: pp.34-43
Keywords: Wolfram syndrome, WFS1, diabetes mellitus, diabetes insipidus, optic atrophy, sensorineural deafness, WOLFRAM-SYNDROME, ENDOPLASMIC-RETICULUM, PROTEIN, NEURODEGENERATION, CHILDREN, DISEASE, CELLS
Hacettepe University Affiliated: Yes

Abstract

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 incomplete phenotype of WS1 were evaluated using homozygosity mapping and subsequent whole-exome sequencing.