• PMID: 15357566
• Gene Name: CFTR
• Condition: Congenital bilateral absence of vas deferens (CBAVD)
• Association: 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.
• Mutation: exon 17b (3373G>C)
• Population size: 1
• Population details: 1 congenital bilateral absence of the vas deferens
• Age: 39 yrs
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Congenital bilateral absence of vas deferens (CBAVD)

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

Ngukam A, Jacquemont ML, Souville I, Viel M, Beldjord C, Hubert D, Hughes JN, Bienvenu T.

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. FAU - Ngukam, Angele AU - Ngukam A AD - Laboratoire de Biochimie et Génétique Moléculaires, Hôpital Cochin Paris, France. FAU - Jacquemont, Marie Line AU - Jacquemont ML FAU - Souville, Isabelle AU - Souville I FAU - Viel, Marion AU - Viel M FAU - Beldjord, Cherif AU - Beldjord C FAU - Hubert, Dominique AU - Hubert D FAU - Hughes, Jean-Noël AU - Hughes JN