Benefits of Newborn Screening for Vitamin D-Dependant Rickets Type 1A in a Founder Population.

ABSTRACT:

Background

Vitamin D-dependant rickets type 1A (VDDR1A) is a rare autosomal recessive disorder caused by pathogenic variants in the CYP27B1 gene. This gene is essential for vitamin D activation. Although VDDR1A is a rare condition worldwide, its prevalence is high in the Saguenay-Lac-Saint-Jean (SLSJ) region due to a founder effect. Daily intake of calcitriol before the onset of clinical manifestations can prevent them in affected children.

Methods

A genetic screening test was developed and validated for the CYP27B1 gene c.262del pathogenic variant. Newborn screening was implemented in the SLSJ region for this variant, and the feasibility and acceptability were assessed. Sixteen medical records of children affected with VDDR1A were reviewed to document the cons

SUBMITTER: Fortin CA 

PROVIDER: S-EPMC9120640 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature