A novel homozygous missense variant in <i>TBC1D31</i> in a consanguineous family with congenital anomalies of the kidney and urinary tract (CAKUT)

SAYGILI S. K., Kosukcu C., BAŞTUĞ T., AKGÜN DOĞAN Ö., Yilmaz E. K., Kalyoncu A. U., ...Daha Fazla

CLINICAL GENETICS, cilt.104, sa.6, ss.679-685, 2023 (SCI-Expanded) identifier identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 104 Sayı: 6
  • Basım Tarihi: 2023
  • Doi Numarası: 10.1111/cge.14406
  • Dergi Adı: CLINICAL GENETICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, BIOSIS, CAB Abstracts, EMBASE
  • Sayfa Sayıları: ss.679-685
  • Acıbadem Mehmet Ali Aydınlar Üniversitesi Adresli: Evet

Özet

Congenital anomalies of the kidney and urinary tract (CAKUT) is the leading cause of chronic kidney disease in the first three decades of life. Until now, more than 180 monogenic causes of isolated or syndromic CAKUT have been described. In addition, copy number variants (CNV) have also been implicated, however, all of these causative factors only explain a small fraction of patients with CAKUT, suggesting that additional yet-to-be-discovered novel genes are present. Herein, we report three siblings (two of them are monozygotic twin) of a consanguineous family with CAKUT. Whole-exome sequencing identified a homozygous variant in TBC1D31. Three dimensional protein modeling as well as molecular dynamics simulations predicted it as pathogenic. We therefore showed for the first time an association between a homozygous TBC1D31 variant with CAKUT in humans, expanding its genetic spectrum.