Allelic prevalence and geographic distribution of cerebrotendinous xanthomatosis.

ABSTRACT:

Background

Cerebrotendinous xanthomatosis (CTX) is a rare recessive genetic disease characterized by disruption of bile acid synthesis due to inactivation of the CYP27A1 gene. Treatment is available in the form of bile acid replacement. CTX is likely underdiagnosed, and prevalence estimates based on case diagnosis are probably inaccurate. Large population-based genomic databases are a valuable resource to estimate prevalence of rare recessive diseases as an orthogonal unbiased approach building upon traditional epidemiological studies.

Methods

We leveraged the Hardy-Weinberg principle and allele frequencies from gnomAD to calculate CTX prevalence. ClinVar and HGMD were used to identify high-confidence pathogenic missense variants and to calculate a disease-specific cutoff. V

SUBMITTER: Pramparo T 

PROVIDER: S-EPMC9843874 | biostudies-literature | 2023 Jan

REPOSITORIES: biostudies-literature