Faiza Cabet

Publications (4)13.94 Total impact

• Source

  Available from: Pascale Salameh

  Article: Mutational spectrum of cystic fibrosis in the Lebanese population.

  Chantal Farra, Rita Menassa, Johnny Awwad, Yves Morel, Pascale Salameh, Nadine Yazbeck, Marianne Majdalani, Rima Wakim, Khalid Yunis, Salman Mroueh, Faiza Cabet
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  ABSTRACT: Cystic fibrosis (CF) is the most common autosomal recessive disease in Caucasians; it is however, considered to be rare in the Arab populations. Reports of the cystic fibrosis transmembrane regulator (CFTR) mutations from Arabs, especially from the Lebanese population, are limited. Twenty-two unrelated Lebanese families, with at least one child with CF, were studied. DNA extracts from blood samples of patients and parents were screened for CFTR gene mutations. Eleven different mutations were identified. Of the 44 alleles studied, the most common mutations were: F508del (34%), N1303K (27%), W1282X (7%), and S4X (7%). Five mutations - not previously reported in the Lebanese population - were identified; these are: S549N, G542X, 2043delG, 4016insG, and R117H-7T. The most common CFTR mutations in addition to five mutations not previously described in the Lebanese population were identified. Identification of CFTR mutations in the Lebanese population is important for molecular investigations and genetic counseling.
  Journal of cystic fibrosis: official journal of the European Cystic Fibrosis Society 12/2010; 9(6):406-10. · 3.19 Impact Factor
• Article: Cystic fibrosis: a new mutation in the Lebanese population.

  Chantal Farra, Rita Medawar, Salman Mroueh, Myrna Souaid, Faiza Cabet, Johnny Awwad
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  ABSTRACT: Cystic fibrosis is the most common autosomal recessive disorder in Caucasians. Little has been reported on its occurrence in Arab and Lebanese populations where mutation distribution seems to differ from that of Europeans. We report on the occurrence of a frameshift mutation 4016insG in two Lebanese Muslim siblings, products of consanguineous parents. This mutation generates a stop codon instead of Arginine-1301 and has never been reported before. Both probands manifested early onset of severe respiratory and pancreatic involvement. DNA analysis was performed by PCR and sequencing for exons 1, 4, 10, 11, 20, 21 of the CFTR gene. Both probands were found to be homozygous for the 4016insG. Their parents were both heterozygous for the same mutation. The frameshift mutation reported in this article is being described for the first time.
  Journal of Cystic Fibrosis 06/2008; 7(5):429-32. · 3.19 Impact Factor
• Article: Novel human pathological mutations. Gene symbol: CFTR. Disease: cystic fibrosis.

  Chantal Farra, Rita Medawar, Faiza Cabet, Salman Mroueh, Myrna Souaid, Hala Hourani, Carla Mounsef, Hanine Ashkar, Johnny Awwad
  Human Genetics 01/2008; 122(5):553. · 5.07 Impact Factor
• Article: Unexpected diagnosis of cystic fibrosis at liver biopsy: a report of four pediatric cases.

  Sophie Collardeau-Frachon, Raymonde Bouvier, Catherine Le Gall, Christine Rivet, Faiza Cabet, Gabriel Bellon, Alain Lachaux, Jean-Yves Scoazec
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  ABSTRACT: We report here four cases of pediatric patients in whom the diagnosis of cystic fibrosis was made only after the histological examination of a liver specimen obtained by biopsy (three cases) or at autopsy (one case). There were two boys and two girls, aged 13 months to 7.5 years. None had a personal or familial history suggestive of cystic fibrosis. One patient, presenting with myocardial lesion and hepatomegaly, died of heart failure; at autopsy, the liver showed a typical aspect of focal biliary cirrhosis. In the three other cases, liver disease was the only manifestation of cystic fibrosis at the time of diagnosis. Liver biopsy examination showed focal biliary cirrhosis in one case and massive steatosis in two. In all four cases, the diagnosis was confirmed by the existence of known pathogenic mutations in the CFTR gene. The evolution was variable; one patient had progressive liver disease with severe portal hypertension after 7 years; another one had lung complications after 1 year. In conclusion, our experience recalls that the diagnosis of cystic fibrosis must be considered in children presenting with unexplained liver disease; its confirmation by molecular techniques makes it possible to set up an appropriate follow-up.
  Archiv für Pathologische Anatomie und Physiologie und für Klinische Medicin 08/2007; 451(1):57-64. · 2.49 Impact Factor