CFTR mutation in an Arab patient: clinical and functional features of 875+1G-->A/875+1G-->A genotype

Elide Spinelli; Manuela Seia; Paola Melotti; Eleonora Marchina; Rita Padoan

doi:10.1016/j.jcf.2009.05.003

CFTR mutation in an Arab patient: clinical and functional features of 875+1G-->A/875+1G-->A genotype

J Cyst Fibros. 2009 Jul;8(4):282-4. doi: 10.1016/j.jcf.2009.05.003. Epub 2009 May 28.

Authors

Elide Spinelli¹, Manuela Seia, Paola Melotti, Eleonora Marchina, Rita Padoan

Affiliation

¹ Biology and Genetics Unit, Department of Biomedical Sciences and Biotechnologies, University of Brescia, Italy.

PMID: 19481507
DOI: 10.1016/j.jcf.2009.05.003

Abstract

Cystic fibrosis (CF; MIM# 219700) is the most frequent recessive disease in Caucasian patients. However, immigration from the Middle East and Africa to Europe is revealing different CFTR mutations. Here, we have described an 875+1G-->A mutation, found for the first time in a homozygous state in an 8 yr old boy. He was the child of a couple of Egyptian first level cousins, both carriers of the mutation. The functional test revealed the 875+1G-->A to be a severe mutation, leading to defective protein function as detected by nasal potential difference (NPD) measurements.

Publication types

Case Reports

MeSH terms

Arabs / genetics*
Child
Cystic Fibrosis / ethnology
Cystic Fibrosis / genetics*
Cystic Fibrosis Transmembrane Conductance Regulator / genetics*
Family Health
Genotype
Homozygote
Humans
Male
Pedigree
Point Mutation
Severity of Illness Index*

Substances

CFTR protein, human
Cystic Fibrosis Transmembrane Conductance Regulator