A homozygous HOXA11 variation as a potential novel cause of autosomal recessive congenital anomalies of the kidney and urinary tract

Creative Commons License

Saygili S. K., Atayar E., Canpolat N., Elicevik M., Kurugoglu S., Sever L., ...Daha Fazla

Clinical Genetics, cilt.98, sa.4, ss.390-395, 2020 (SCI-Expanded, Scopus) identifier identifier identifier

  • 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.