CFTR mutations and phenotypic correlations in people with cystic fibrosis: a retrospective study from a single centre in south India.

ABSTRACT:

Background

Emerging data reveal higher-than-expected prevalence of cystic fibrosis (CF) among non-European populations worldwide including in the Indian subcontinent. Systematic analyses of the CFTR mutation profile, and genotype-phenotype correlations among people with CF from south, east, or northeast India have not been reported before. We wanted to identify CFTR mutations in people with CF, and highlight novel variants, selective phenotypic correlations, and regional variances within India.

Methods

A retrospective study was conducted at Christian Medical College, Vellore, India (single tertiary referral hospital) from September 2010 to August 2022, involving 120 people with CF from (i) four south Indian states (Tamil Nadu, Andhra Pradesh, Kerala, Karnataka)

SUBMITTER: Varkki SD 

PROVIDER: S-EPMC11222800 | biostudies-literature | 2024 Aug

REPOSITORIES: biostudies-literature