A novel missense mutation A1081P in the cystic fibrosis transmembrane conductance regulator (CFTR) gene identified in a Laotian patient with congenital bilateral absence of the vas deferens.
Cystic fibrosis is the most common autosomal disorder in the Caucasion population. However, the disease is rare in Asia and little is known about the spectrum of CF transmembrane conductance regulator, CFTR, mutations in this population. We studied a 39-year-old Loatian patient with congenital bilateral absence of the vas deferens and identified a novel missense mutation in exon 17b (3373G>C). Identification of novel mutations in this Asian population is of particular interest when designing a genetic testing strategy in Asian countries and also in other countries where immigration from Asia is common.
Ngukam
Angele
A
Laboratoire de Biochimie et Génétique Moléculaires, Hôpital Cochin Paris, France.
Jacquemont
Marie Line
ML
Souville
Isabelle
I
Viel
Marion
M
Beldjord
Cherif
C
Hubert
Dominique
D
Hughes
Jean-Noël
JN
Bienvenu
Thierry
T
D000328:Adult; D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D006801:Humans; D007248:Infertility, Male / Q000235:genetics*; D007812:Laos; D008297:Male; D020125:Mutation, Missense / Q000235:genetics*; D014649:Vas Deferens / Q000002:abnormalities*
C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator