Cystic fibrosis mutations in Romania

Abstract

Genetic analysis of 32 children with cystic fibrosis from Romania showed a 25% incidence of DeltaF508 mutation and a 64.5% incidence of unknown mutations, 5 other known mutations and 1 new mutation 1,717-2(A > G).

The study of cystic fibrosis transmembrane conductance regulator gene mutations in a group of patients from Romania

“…Sweat testing using modern equipment has only recently become possible, but alternative methods like the measurement of nasal potential difference and rectal chloride transport (intestinal current measurement) are also in use. We propose that in earlier studies of Romanian CF patients, the study cohort included individuals whose diagnosis was not correctly ascertained, leading to reduced frequencies of F508del: 37.5% (Pop et al, personal communication, 1994), and 25% [6]. In 1997 the relative frequency of F508del in Romania was estimated at 42% [4].…”

“…The first study [6] of mutations in children with CF from Romania was performed on a small number of patients and was focused on the F508del mutation, for which a low frequency was reported. These data were also included in the reviews on the worldwide distribution of CFTR mutations [4,5].…”

The Phenotypic Consequences of CFTR Mutations

“…The geographical distribution of CFTR mutations also varies worldwide. Across Europe there is a northwest to southeast gradient in the frequency of F508, with the highest frequency in Denmark (90%), and the lowest frequencies in Turkey, where analysis of 122 unrelated chromosomes from 73 families revealed the prevalence of F508 to be 18.8% (Onay et al 1998), and Romania, where the proportion of CF patients carrying F508 was determined to be 25% (Popa et al 1997). Ashkenazi Jews have a low incidence of F508 but have an increased frequency (60%) of the nonsense mutation W1282X (Shoshani et al 1992).…”

Genotypes and Phenotypes in Cystic Fibrosis and Cystic Fibrosis Transmembrane Regulator–Related Disorders

“…The common F508del mutation shows a northwest to southeast frequency gradient across Europe, with the highest frequency in Denmark, and the lowest in Turkey. [14][15][16] The remaining third of alleles show variable frequencies in different populations, with some mutations reaching a higher frequency in certain populations, likely due to a founder effect in religious, ethnic, or geographical isolates. 17,18 Overviews of the distribution of CFTR mutations causing CF have been produced by WHO 11 and Bobadilla et al 16 However, these reports may over-represent mutations easier to screen for compared with those technically more difficult to detect, do not contain data on intra-CFTR rearrangements, and have limited information on mutations occurring in non-European-derived populations.…”