Supl. 1.

authors

Aleksandra Norek, A. Sobczyńska-Tomaszewska, Jan Karol Wolski, D. Sands, M. Trawińska-Bartnicka, E. Sapiejko, K. Czerska, K. Wertheim, J. Bal: Instytut Matki i Dziecka w Warszawie
Przychodnia Leczenia Niepłodności „Novum” w Warszawie
Specjalistyczny Zespół Opieki Zdrowotnej nad Matką i Dzieckiem w Gdańsku

summary

Introduction.

The R117H mutation produces a CFTR protein that affects chloride conductance. The phenotypic effect of R117H is mild and can range from classical form of cystic fibrosis (CF) through congenital bilateral absence of vas deferences (CBAVD) to no clinical symptoms. This is explained by additional effect of the polythymidine sequence of intron 8 (IVS8-T). The R117H+IVS8-7T or 9T variant with F508del on second CFTR allele is the most frequent genotype responsible for male infertility due to CBAVD. According to different research and clinical groups, only R117H with 5T variant in cis is considered to be a CF-causing mutation.

Objectives.

The aim of the study was to evaluate the impact of R117H mutation occurred together with IVS8-T variant other than 5T on clinical status.

Materials and methods.

The group of nine patients (4 with CF, 5 with male infertility due to azoospermia) with genotype [R117H+ IVS8-7T or 9T] / [other CFTR mutation] were examined. Clinical data of all patients were collected between November 2007 and January 2008.

Retrospective study was carried out comparing: pulmonary functions, pancreatic and bacteriological status.

Conclusions.

The R117H mutation, even without IVS8-5T variant, is responsible for either CFTR related disorders like male infertility due to azoospermia and CBAVD or typical and atypical forms of cystic fibrosis. Of course in this case, the modulatory impact of the other genes closely related to CFTR gene and sequence variations in CFTR gene as well as the environmental factors is not possible to be excluded.