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CFTR p.Arg117His associated with CBAVD and other CFTR-related disorders

Christel Thauvin-Robinet1, Anne Munck, Frédéric Huet

  • 1Centre de Génétique, Hôpital d'Enfants, 10 Bd du Maréchal de Lattre de Tassigny, Dijon cedex 21034, France. christel.thauvin@chu-dijon.fr

Journal of Medical Genetics
|February 5, 2013
PubMed

Insights

The p.Arg117His mutation in the CFTR gene is common in CBAVD patients. Most patients show mild symptoms, but genetic counseling and CFTR analysis are crucial for at-risk couples.

Area of Science:

  • Genetics
  • Medical Genetics
  • Molecular Biology

Background:

  • The p.Arg117His mutation in the cystic fibrosis (CF) transmembrane conductance regulator (CFTR) gene presents a diagnostic challenge due to its high frequency in congenital bilateral absence of the vas deferens (CBAVD) patients and newborns screened for CF.
  • Understanding the clinical implications of this mutation is essential for accurate diagnosis and genetic counseling.

Purpose of the Study:

  • To investigate the phenotypic and genotypic characteristics of individuals carrying the p.Arg117His CFTR mutation.
  • To assess the clinical outcomes and reproductive risks associated with this mutation in a French cohort.

Main Methods:

  • Retrospective collection of phenotypic and genotypic data from 179 French individuals with the p.Arg117His mutation and a second CFTR mutation.
  • Data were gathered from molecular genetics laboratories, referring physicians, CF care centers, and infertility clinics.

Main Results:

  • 97% of patients carried the intronic T7 normal variant in cis with p.Arg117His. 89% were male, with CBAVD being the primary referral reason in 76%.
  • Among 166 patients with detailed clinical data, diagnoses included isolated CBAVD (83), other CFTR-related phenotypes (67), and four cases of late-onset pulmonary disease. Respiratory symptoms were mild in 30% of patients.
  • Five couples at risk for CF offspring were identified, with four utilizing prenatal or preimplantation genetic diagnosis (PND/PGD).

Conclusions:

  • Patients with CBAVD and the p.Arg117His mutation, especially when combined with a severe CFTR mutation, require clinical evaluation and follow-up.
  • CFTR analysis in partners of CBAVD patients with this genotype is recommended to identify carrier couples and facilitate reproductive choices like PND or PGD.
Abstract

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