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A recurrent deep-intronic splicing CF mutation emphasizes the importance of mRNA studies in clinical practice

Catherine Costa1, Virginie Pruliere-Escabasse, Alix de Becdelievre

  • 1APHP, Groupe hospitalier Henri Mondor, Service de Biochimie-Génétique, Créteil, F-94010, France.

Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society
|July 26, 2011
PubMed
Abstract

Insights

A new deep-intronic splicing mutation, c.870-1113_1110delGAAT, in cystic fibrosis (CF) patients can cause variable symptoms and delayed diagnosis. Its frequency suggests mRNA studies are valuable for identifying CF-causing mutations.

Area of Science:

  • Genetics
  • Molecular Biology
  • Medical Research

Background:

  • A novel deep-intronic splicing mutation, c.870-1113_1110delGAAT, was identified in cystic fibrosis (CF) patients.
  • Initial findings suggested a link between this mutation and mild CF symptoms, prompting further investigation.

Purpose of the Study:

  • To evaluate the frequency of the c.870-1113_1110delGAAT mutation in CF patients.
  • To analyze genotype-phenotype correlations associated with this mutation.

Main Methods:

  • Genomic DNA (gDNA) analysis was performed on 266 patients with CF and related disorders who had at least one unidentified mutation.
  • Testing was conducted across three French reference laboratories.

Main Results:

  • The c.870-1113_1110delGAAT mutation was found in 13 unrelated patients and 4 siblings, representing 5% of individuals with a previously undetected mutation.
  • Phenotypic data revealed a positive sweat test in 10/14 cases, delayed diagnosis beyond 20 years in 9/15, and pancreatic insufficiency in 5/16 patients.
  • One homozygote and 12 heterozygotes (with a severe CF mutation) were identified.

Conclusions:

  • The c.870-1113_1110delGAAT mutation is considered CF-causing, exhibiting variable phenotypes and often leading to delayed diagnosis.
  • The mutation's prevalence underscores the diagnostic potential of mRNA studies in cystic fibrosis.

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