Cystic fibrosis patients with mutation 1949del84 in exon 13 of the CFTR gene have a similar clinical severity as ΔF508 homozygotes
✍ Scribed by V. Nunes; T. Casals; A. Gaona; G. Antiñolo; J. Ferrer-Calvete; J. Pérez-Frias; E. Tardío; J. Molano; X. Estivill
- Publisher
- John Wiley and Sons
- Year
- 1992
- Tongue
- English
- Weight
- 437 KB
- Volume
- 1
- Category
- Article
- ISSN
- 1059-7794
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✦ Synopsis
The majority of the identified cystic fibrosis (CF) mutations are very uncommon in the total patient population, making the correlation between the clinical presentation and the molecular alterations difficult. The largest deletion that has been described so far in C F is of 84 bp in exon 13, which corresponds to the regulatory (R) domain of the C F transmembrane conductance regulator (CFTR) protein. We have analysed 340 Spanish C F patients for this deletion, named 1949de184, and found three further compound heterozygous patients for mutations 1949de184 and AF508, and one for 1949de184 and an unknown mutation. Evaluation of the clinical data in these patients suggests that this in-frame deletion, when associated with AF508, has a similar disease severity to that of AF508 homozygous patients.