𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France

✍ Scribed by Mireille Claustres; Caroline Guittard; Dominique Bozon; Françoise Chevalier; Claudine Verlingue; Claude Ferec; Emanuelle Girodon; Cécile Cazeneuve; Thierry Bienvenu; Guy Lalau; Viviane Dumur; Delphine Feldmann; Eric Bieth; Martine Blayau; Christine Clavel; Isabelle Creveaux; Marie-Claire Malinge; Nicole Monnier; Perrine Malzac; Hervé Mittre; Jean-Claude Chomel; Jean-Paul Bonnefont; Albert Iron; Michèle Chery; Marie Des Georges

Publisher
John Wiley and Sons
Year
2000
Tongue
English
Weight
532 KB
Volume
16
Category
Article
ISSN
1059-7794

No coin nor oath required. For personal study only.

✦ Synopsis

We have collated the results of cystic fibrosis (CF) mutation analysis conducted in 19 laboratories in France. We have analyzed 7,420 CF alleles, demonstrating a total of 310 different mutations including 24 not reported previously, accounting for 93.56% of CF genes. The most common were F508del (67.18%; range 61-80), G542X (2.86%; range 1-6.7%), N1303K (2.10%; range 0.75-4.6%), and 1717-1G>A (1.31%; range 0-2.8%). Only 11 mutations had relative frequencies >0.4%, 140 mutations were found on a small number of CF alleles (from 29 to two), and 154 were unique. These data show a clear geographical and/or ethnic variation in the distribution of the most common CF mutations. This spectrum of CF mutations, the largest ever reported in one country, has generated 481 different genotypes. We also investigated a cohort of 800 French men with congenital bilateral absence of the vas deferens (CBAVD) and identified a total of 137 different CFTR mutations. Screening for the most common CF defects in addition to assessment for IVS8-5T allowed us to detect two mutations in 47.63% and one in 24.63% of CBAVD patients. In a subset of 327 CBAVD men who were more extensively investigated through the scanning of

📜 SIMILAR VOLUMES

A T3 allele in the CFTR gene exacerbates
A T3 allele in the CFTR gene exacerbates exon 9 skipping in vas deferens and epididymal cell lines and is associated with Congenital Bilateral Absence of Vas Deferens (CBAVD)
✍ Antoine Disset; Carine Michot; Ann Harris; Emanuele Buratti; Mireille Claustres; 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 425 KB

## Communicated by Garry Cutting The different alleles at the (TG)m(T)n polymorphic loci at the 3 0 end of the human CFTR intron 8 determine the efficiency by which exon 9 is spliced. We identified a novel TG12T3 allele in a congenital bilateral absence of vas deferens (CBAVD) patient who carries

Morphological changes in the vas deferen
Morphological changes in the vas deferens and expression of the cystic fibrosis transmembrane conductance regulator (CFTR) in control, ΔF508 and knock-out CFTR mice during postnatal life
✍ Ingrid Reynaert; Bernadette Van Der Schueren; Gisèle Degeest; Michèle Manin; Har 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 952 KB

The morphology of the mouse vas deferens still undergoes major changes from birth to 40 days of age, such as differentiation of the mesenchymal cells into fibroblasts and muscle cells, differentiation of the epithelium into basal and columnar epithelial cells, development of stereocilia, and the app