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.

Atıf İçin Kopyala

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

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

Yayın Türü: Makale / Tam Makale
Cilt numarası: 13
Basım Tarihi: 2021
Doi Numarası: 10.4274/jcrpe.galenos.2020.2020.0152
Dergi Adı: Journal of clinical research in pediatric endocrinology
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, CINAHL, EMBASE, MEDLINE, Directory of Open Access Journals, TR DİZİN (ULAKBİM)
Sayfa Sayıları: ss.34-43
Anahtar Kelimeler: Wolfram syndrome, WFS1, diabetes mellitus, diabetes insipidus, optic atrophy, sensorineural deafness, WOLFRAM-SYNDROME, ENDOPLASMIC-RETICULUM, PROTEIN, NEURODEGENERATION, CHILDREN, DISEASE, CELLS
Hacettepe Üniversitesi Adresli: Evet

Özet

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.