New frameshift CF mutation 3729delAinsTCT in a Tunisian cystic fibrosis patient

Abstract

More than 1800 CFTR (cystic fibrosis transmembrane conductance regulator gene) sequence variations have been identified in the cystic fibrosis (CF) mutation database (http://www.genet.sickkids.on.ca/cftr/). For North African populations, however, the nature and frequency of the major CFTR mutations remain unclear, although a small number of CFTR mutation detection studies have been done in Algeria and Tunisia, which have largely shown European mutations such as 1653del CTT (F508del), 1756 G→T (G542X) and 4036 C→G (N1303K), albeit at different frequencies, which presumably emerged via population admixture with European Caucasians (Messaoud et al. 2005; Loumi et al. 2008). In this study, we report identification of a new frameshift mutation, 3729 delA insTCT, in exon 19 of the CFTR gene associated with 3442 G→T (E1104X) mutation in a Tunisian CF patient, and its clinical manifestation. Determination of this new mutation enhances the epidemiological data for the Tunisian population. It was helpful in providing genetic counselling to the affected family.