Complex cystic fibrosis allele R334W-R1158X results in reduced levels of correctly processed mRNA in a pancreatic sufficient patient
✍ Scribed by Ângela Duarte; Margarida Amaral; Celeste Barreto; Paula Pacheco; João Lavinha
- Book ID
- 102656030
- Publisher
- John Wiley and Sons
- Year
- 1996
- Tongue
- English
- Weight
- 612 KB
- Volume
- 8
- Category
- Article
- ISSN
- 1059-7794
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✦ Synopsis
CFTR alleles containing two mutations have been very rarely found in cystic fibrosis (CF) patients. They provide an opportunity to study the effect of two in cis-interacting gene defects on gene expression. Here, we describe a three-generation CF family with a complex CFTR allele that has not been previously described, containing the missense mutation R334W in exon 7 and the nonsense mutation R1158X in exon 19. Lymphocyte RNA analysis showed that (1) the mRNA corresponding to the complex allele is present although at markedly reduced levels; and (2) the nonsense mutation does not lead to detectable skipping of exon 19. The clinical picture of the patients with the genotype R334W-R1158WAF508 is characterized by pancreatic sufficiency and an atypical course of the disease.