Classical homocystinuria: A common inborn error of metabolism? An epidemiological study based on genetic databases.

ABSTRACT:

Background

Biallelic pathogenic variants in CBS gene cause the most common form of homocystinuria, the classical homocystinuria (HCU). The worldwide prevalence of HCU is estimated to be 0.82:100,000 [95% CI, 0.39-1.73:100,000] according to clinical records and 1.09:100,000 [95% CI, 0.34-3.55:100,000] by neonatal screening. In this study, we aimed to estimate the minimal worldwide incidence of HCU.

Methods

The 25 most common pathogenic alleles of HCU were identified through a literature review. The incidence of HCU was estimated based on the frequency of these common pathogenic alleles in a large genomic database (gnomAD).

Results

The minimum worldwide incidence of HCU was estimated to be ~0.38:100,000, and the incidence was higher in Europeans non-Finnish (~0.72:100,0

SUBMITTER: Weber Hoss GR 

PROVIDER: S-EPMC7284035 | biostudies-literature | 2020 Jun

REPOSITORIES: biostudies-literature