Searchable abstracts of presentations at key conferences on calcified tissues
Bone Abstracts (2017) 6 P112 | DOI: 10.1530/boneabs.6.P112

ICCBH2017 Poster Presentations (1) (209 abstracts)

A novel mutation of CYP27B1 in two siblings with vitamin D-dependent rickets type 1A

Zerrin Orbak

Ataturk University, Medical Faculty Department of Pediatric Endocrinology, Erzurum, Turkey.

: Rickets can occur due to vitamin D deficiency or defects in its metabolism. Mutations in the CYP27B1 gene, which encodes vitamin D 1α-hydroxylase, are the genetic basis of vitamin D-dependent rickets type 1A (VDDR1A, OMIM 264700). Vitamin D dependent rickets type 1 is inherited in an autosomal recessive pattern. We report here a new mutation in CYP27B1, which lead to vitamin D dependent rickets type 1. Two boy siblings from a consanguineous Turkish family presented to endocrinologist with short stature and classic features of rickets. We investigated the CYP27B1 gene. A genetic analysis identified a novel homozygous mutation (CYP27B1: Homozygous c.574A > G(p.K192E)). According to the Human Gene Mutation Database, the homozygous mutation identified in our patients is novel and has not yet been reported in the literature. This mutation provides a new basis for further research on VDDR1A and for clinical diagnostics.

Disclosure: The authors declared no competing interests.

Volume 6

8th International Conference on Children's Bone Health


Browse other volumes

Article tools

My recent searches

No recent searches.