Geographic distribution of cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in Saudi Arabia.

ABSTRACT:

Introduction

Cystic fibrosis (CF) has been reported before in Saudi Arabia and the Gulf area. It has been found that screening for 10 most common cystic fibrosis transmembrane conductance regulator (CFTR) mutations can detect 80% of positive CFTR cases.

Objectives

To determine the geographic distribution of the most common CFTR variants in 5 regions of Saudi Arabia.

Methodology

A retrospective chart review of all CFTR variants conducted from January 1, 1992 to December 1, 2017.

Results

The ten most common CFTR mutations in the Saudi population were as follows: p.Gly473GlufsX54 (17%), p.Phe508del (12%), p.Ile1234Val (12%), 3120+1G > A (11%), 711+1G > T (9%), p.His139Leu (6%), p.Gln637Hisfs (5%), p.Ser549Arg (3%), p.N1303K (3%), and delExon19-21 (2%) along with o

SUBMITTER: Banjar H 

PROVIDER: S-EPMC7922840 | biostudies-literature | 2021 Mar

REPOSITORIES: biostudies-literature