PMID- 10651488
OWN - NLM
STAT- MEDLINE
DCOM- 20000124
LR  - 20051117
IS  - 1059-7794 (Print)
IS  - 1059-7794 (Linking)
VI  - 12
IP  - 3
DP  - 1998
TI  - A novel missense mutation D513G in exon 10 of the cystic fibrosis transmembrane
      conductance regulator (CFTR) gene identified in a French CBAVD patient. Mutations
      in brief no. 175. Online.
PG  - 213-4
AB  - Congenital bilateal absence of the vas deferens (CBAVD) with obstructive
      azoospermia is a congenital reproductive disorder that affects one in 10000 male 
      individuals. The observation that many men presenting with CBAVD have mutations
      in their CFTR genes had led to the proposal that CBAVD may be a primary genital
      form of cystic fibrosis. We report here one novel mutation located in exon 10 of 
      the CFTR gene. This mutation, named D513G (A-->G at position 1670), has been
      found in one of 83 patients with CBAVD from France, the analysis of exon 10 using
      a chemical clamp DGGE assay allowed us to identify three CF mutations AEF508
      (37/166; 22%), AE1507 (1/166; 0/6%) and D513G (1/166; 0.6%), and two variants
      M470V and E528E (1716 G>A). The novel D513G mutation has not been found in more
      than 200 non-CF chromosomes and in a sample of 300 CF chromosomes from French
      classical CF patients.
FAU - Bienvenu, T
AU  - Bienvenu T
AD  - Laboratoire de Biochimie et Genetique Moleculaire, CHU Cochin, 123 bld
      Port-Royal, 75014 Paris, France. bienvenu@cochin.inserm.fr
FAU - Bousquet, S
AU  - Bousquet S
FAU - Vidaud, D
AU  - Vidaud D
FAU - Hubert, D
AU  - Hubert D
FAU - Francoual, C
AU  - Francoual C
FAU - Beldjord, C
AU  - Beldjord C
FAU - Kaplan, J C
AU  - Kaplan JC
LA  - eng
PT  - Journal Article
PL  - United States
TA  - Hum Mutat
JT  - Human mutation
JID - 9215429
RN  - 0 (CFTR protein, human)
RN  - 126880-72-6 (Cystic Fibrosis Transmembrane Conductance Regulator)
SB  - IM
MH  - Animals
MH  - Cattle
MH  - Conserved Sequence
MH  - Cystic Fibrosis Transmembrane Conductance Regulator/*genetics
MH  - Exons/*genetics
MH  - France
MH  - Humans
MH  - Male
MH  - Mice
MH  - Mutation, Missense/*genetics
MH  - Vas Deferens/*abnormalities
EDAT- 2000/01/29 00:00
MHDA- 2000/01/29 00:01
CRDT- 2000/01/29 00:00
PHST- 2000/01/29 00:00 [pubmed]
PHST- 2000/01/29 00:01 [medline]
PHST- 2000/01/29 00:00 [entrez]
PST - ppublish
SO  - Hum Mutat. 1998;12(3):213-4.