Journal ArticleDOI
High Frequency of the R117H Cystic Fibrosis Mutation in Patients with Congenital Absence of the Vas Deferens
Radj Gervais,Viviane Dumur,Jean-Marc Rigot,Jean-Jacques Lafitte,Philippe Roussel,Mireille Claustres,Jacques Demaille +6 more
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TLDR
Looking for other mutations of the cystic fibrosis gene in a group of 23 patients with congenital absence of the vas deferens, 11 of whom were heterozygous for the δF508 mutation found that four patients were compound heterozygotes, all having an R117H mutation in exon 4.Abstract:
To the Editor: We have previously described an increased frequency of the δF508 mutation of the cystic fibrosis gene in a group of patients with congenital absence of the vas deferens1. This sugges...read more
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Journal ArticleDOI
Mutations in the Cystic Fibrosis Gene in Patients with Congenital Absence of the Vas Deferens
Miguel Chillón,Teresa Casals,Bernard Mercier,Lluís Bassas,Willy Lissens,Sherman J. Silber,Marie-Catherine Romey,Javier Ruiz-Romero,C. Verlingue,Mireille Claustres,V. Nunes,Claude Férec,Xavier Estivill +12 more
TL;DR: The combination of the 5T allele in one copy of the CFTR gene with a cystic fibrosis mutation in the other copy is the most common cause of CBAVD.
Journal ArticleDOI
Cystic fibrosis: genotypic and phenotypic variations
Julian Zielenski,Lap-Chee Tsui +1 more
TL;DR: An unexpected finding is the documentation of CFTR mutations in patients with atypical CF disease presentations, including congenital absence of vas deferens and several pulmonary diseases, suggesting that the implication ofCFTR mutation is more profound than CF alone.
Journal ArticleDOI
Laboratory standards and guidelines for population-based cystic fibrosis carrier screening.
Wayne W. Grody,Garry R. Cutting,Katherine W. Klinger,Carolyn Sue Richards,Michael S. Watson,Robert J. Desnick +5 more
TL;DR: Recommendations detailed here have been incorporated into a joint ACMG/ACOG/NIH Steering Committee document entitled “Preconceptual and Prenatal Carrier Screening for Cystic Fibrosis” which will be widely distributed.
Journal ArticleDOI
Distinct spectrum of CFTR gene mutations in congenital absence of vas deferens
Thilo Dörk,Bernd Dworniczak,Christa Aulehla-Scholz,Dagmar Wieczorek,Ingolf Böhm,Antonia Mayerová,Hans H. Seydewitz,Eberhard Nieschlag,D. Meschede,Jürgen Horst,Hans-Jürgen Pander,Herbert Sperling,Felix Ratjen,Eberhard Passarge,Jörg Schmidtke,Manfred Stuhrmann +15 more
TL;DR: It is shown that CAVD without renal malformation is a primary genital form of cystic fibrosis in the vast majority of German patients and links the particular expression of clinical symptoms in CAVD with a distinct subset of CFTR mutation genotypes.
Journal ArticleDOI
The use of epididymal and testicular spermatozoa for intracytoplasmic sperm injection : the genetic implications for male infertility.
Sherman J. Silber,Zsolt Peter Nagy,Jian Liu,Herman Tournaye,Willy Lissens,Claude Férec,Ingeborg Liebaers,Paul Devroey,Andre Van Steirteghem +8 more
TL;DR: The results and rationale of using testicular and epididymal spermatozoa with intracytoplasmic sperm injection (ICSI) for severe cases of male infertility are reviewed and it is now clear that even with non-obstructive azoospermia, e.g. Sertoli-cell only, or maturation arrest, there are usually some small foci of spermatogenesis which allow TESE with ICSI to be carried out.
References
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Journal ArticleDOI
Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms
TL;DR: The mobility shift analysis of single-stranded DNAs on neutral polyacrylamide gel electrophoresis to detect DNA polymorphisms was developed and SSCPs were found to be allelic variants of true Mendelian traits, and therefore they should be useful genetic markers.
Journal Article
Genetic determination of exocrine pancreatic function in cystic fibrosis.
P. Kristidis,Dominique Bozon,Mary Corey,Danuta Markiewicz,Johanna M. Rommens,Lap-Chee Tsui,Peter R. Durie +6 more
TL;DR: In this paper, the pancreatic function status of cystic fibrosis patients was correlated to mutations in the CF transmembrane conductance regulator (CFTR) gene, showing that approximately 10% of the mutant alleles may confer pancreatic sufficiency.
Journal ArticleDOI
Multiple mutations in highly conserved residues are found in mildly affected cystic fibrosis patients
Michael Dean,Marga Belle White,Jean A. Amos,Bernard Gerrard,Claudia Stewart,Kon Taik Khaw,Mark Leppert +6 more
TL;DR: Three different point mutations in the coding region of the cystic fibrosis transmembrane conductance regulator (CFTR) gene are identified and provide important clues to functionally important regions of the molecule.