NOVEL VDR MUTATIONS IN PATIENTS WITH VITAMIN D-DEPENDENT RICKETS TYPE 2A: A MILD DISEASE PHENOTYPE CAUSED BY A NOVEL CANONICAL SPLICE-SITE MUTATION

DEMİR K., Zou M., Al-Rijjal R. A., BinEssa H., Acar S., Durmaz E., ...More

ENDOCRINE PRACTICE, vol.26, no.1, pp.72-81, 2020 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 26 Issue: 1
  • Publication Date: 2020
  • Doi Number: 10.4158/ep-2019-0295
  • Journal Name: ENDOCRINE PRACTICE
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, EMBASE, MEDLINE
  • Page Numbers: pp.72-81
  • Dokuz Eylül University Affiliated: Yes

Abstract

Objective: Vitamin D-dependent rickets type 2A (VDDR2A) is a rare autosomal recessive disorder caused by mutations in the vitamin D receptor gene (VDR), leading to end-organ resistance to 1,25-dihydroxyvitamin D-3 (1,25[OH](2)D-3). The objective of this study was to investigate VDR mutations in 11 patients from 8 TurkishArab families.