A homozygous HOXA11 variation as a potential novel cause of autosomal recessive congenital anomalies of the kidney and urinary tract
Clinical Genetics, cilt.98, sa.4, ss.390-395, 2020 (SCI-Expanded, Scopus)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 98 Sayı: 4
- Basım Tarihi: 2020
- Doi Numarası: 10.1111/cge.13813
- Dergi Adı: Clinical Genetics
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, BIOSIS, CAB Abstracts, EMBASE, MEDLINE
- Sayfa Sayıları: ss.390-395
- Anahtar Kelimeler: HOXA11, monogenic CAKUT, vesicoureteral reflux, whole-exome sequencing, CANDIDATE GENES, MORPHOGENESIS, ABSENCE, HOXA-11
- Açık Arşiv Koleksiyonu: AVESİS Açık Erişim Koleksiyonu
- İstanbul Üniversitesi-Cerrahpaşa Adresli: Evet
Özet
© 2020 John Wiley & Sons A/S. Published by John Wiley & Sons LtdCongenital anomalies of the kidney and urinary tract (CAKUT) is the leading cause of end-stage kidney disease in children. Until now, more than 50 monogenic causes for CAKUT have been described, all of which only explain 10% to 20% of all patients with CAKUT, suggesting the presence of additional genes that cause CAKUT when mutated. Herein, we report two siblings of a consanguineous family with CAKUT, both of which rapidly progressed to chronic kidney disease in early childhood. Whole-exome sequencing followed by homozygosity mapping identified a homozygous variation in HOXA11. We therefore showed for the first time an association between a homozygous HOXA11 variation with CAKUT in humans, expanding the genetic spectrum of the disease.