CFTR mutation in an Arab patient: clinical and functional features of 875+1G-->A/875+1G-->A genotype.
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.
Spinelli
Elide
E
Biology and Genetics Unit, Department of Biomedical Sciences and Biotechnologies, University of Brescia, Italy.
Seia
Manuela
M
Melotti
Paola
P
Marchina
Eleonora
E
Padoan
Rita
R
D018912:Arabs / Q000235:genetics*; D002648:Child; D003550:Cystic Fibrosis / Q000208:ethnology / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D005192:Family Health; D005838:Genotype; D006720:Homozygote; D006801:Humans; D008297:Male; D010375:Pedigree; D017354:Point Mutation; D012720:Severity of Illness Index
C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator