Homozygous mutation in NUP107 leads to microcephaly with steroid-resistant nephrotic condition similar to Galloway-Mowat syndrome

Rosti, Rasim; Sotak, Bethany; Bielas, Stephanie; Bhat, Gifty; Silhavy, Jennifer; Aslanger, AYÇA; Altunoglu, Umut; Bilge, İlmay; Tasdemir, Mehmet; Yzaguirrem, Amanda; Musaev, Damir; Infante, Sofia; Thuong, Whitney; Marin-Valencia, Isaac; Nelson, Stanley; Kayserili, Hulya; Gleeson, Joseph

doi:10.1136/jmedgenet-2016-104237

Homozygous mutation in NUP107 leads to microcephaly with steroid-resistant nephrotic condition similar to Galloway-Mowat syndrome

Rosti R. O., Sotak B. N., Bielas S. L., Bhat G., Silhavy J. L., Aslanger A. D., ...Daha Fazla

JOURNAL OF MEDICAL GENETICS, cilt.54, sa.6, ss.399-403, 2017 (SCI-Expanded, Scopus)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 54 Sayı: 6
Basım Tarihi: 2017
Doi Numarası: 10.1136/jmedgenet-2016-104237
Dergi Adı: JOURNAL OF MEDICAL GENETICS
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Sayfa Sayıları: ss.399-403
İstanbul Üniversitesi Adresli: Evet

Özet

Background Microcephaly with nephrotic syndrome is a rare co-occurrence, constituting the Galloway-Mowat syndrome (GAMOS), caused by mutations in WDR73 (OMIM: 616144). However, not all patients harbour demonstrable WDR73 deleterious variants, suggesting that there are other yet unidentified factors contributing to GAMOS aetiology.