Detailed genetic characteristics of an international large cohort of patients with Stargardt disease: ProgStar study report 8.

ABSTRACT:

Background/aims

To describe the genetic characteristics of the cohort enrolled in the international multicentre progression of Stargardt disease 1 (STGD1) studies (ProgStar) and to determine geographic differences based on the allele frequency.

Methods

345 participants with a clinical diagnosis of STGD1 and harbouring at least one disease-causing ABCA4 variant were enrolled from 9 centres in the USA and Europe. All variants were reviewed and in silico analysis was performed including allele frequency in public databases and pathogenicity predictions. Participants with multiple likely pathogenic variants were classified into four national subgroups (USA, UK, France, Germany), with subsequent comparison analysis of the allele frequency for each prevalent allele.

Resu

SUBMITTER: Fujinami K 

PROVIDER: S-EPMC6579578 | biostudies-literature | 2019 Mar

REPOSITORIES: biostudies-literature