High frequency of exon 15 deletion in the FANCA gene in Tunisian patients affected with Fanconi anemia disease: implication for diagnosis

Ahlem Amouri; Faten Talmoudi; Olfa Messaoud; Catherine D d'Enghien; Mariem B Rekaya; Ines Allegui; Héla Azaiez; Rym Kefi; Ahlem Abdelhak; Sondes H Meseddi; Lamia Torjemane; Monia Ouederni; Fethi Mellouli; Héla B Abid; Lamia Aissaoui; Mohamed Bejaoui; Tarek B Othmen; Dominique S Lyonnet; Jean Soulier; Mongia Hachicha; Koussay Dellagi; Sonia Abdelhak; Tunisian Fanconi Anemia Study Group

doi:10.1002/mgg3.55

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High frequency of exon 15 deletion in the FANCA gene in Tunisian patients affected with Fanconi anemia disease: implication for diagnosis

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High frequency of exon 15 deletion in the FANCA gene in Tunisian patients affected with Fanconi anemia disease: implication for diagnosis

Ahlem Amouri, Faten Talmoudi, Olfa Messaoud, Catherine D d'Enghien, Mariem B Rekaya, Ines Allegui, Héla Azaiez, Rym Kefi, Ahlem Abdelhak, Sondes H Meseddi, …

Molecular genetics & genomic medicine, Vol.2(2), pp.160-165

03/2014

DOI: 10.1002/mgg3.55

PMCID: PMC3960058

PMID: 24689079

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Abstract

Tunisian population is characterized by its heterogeneous ethnic background and high rate of consanguinity. In consequence, there is an increase in the frequency of recessive genetic disorders including Fanconi anemia (FA). The aim of this study was to confirm the existence of a founder haplotype among FA Tunisian patients and to identify the associated mutation in order to develop a simple tool for FA diagnosis. Seventy-four unrelated families with a total of 95 FA patients were investigated. All available family members were genotyped with four microsatellite markers flanking FANCA gene. Haplotype analysis and homozygosity mapping assigned 83 patients belonging to 62 families to the FA-A group. A common haplotype was shared by 42 patients from 26 families at a homozygous state while five patients from five families were heterozygous. Among them, 85% were from southern Tunisia suggesting a founder effect. Using multiplex ligation-dependent probe amplification (MLPA) technique, we have also demonstrated that this haplotype is associated with a total deletion of exon 15 in FANCA gene. Identification of a founder mutation allowed genetic counseling in relatives of these families, better bone marrow graft donor selection and prenatal diagnosis. This mutation should be investigated in priority for patients originating from North Africa and Middle East.

Genetics

Life Sciences

Human genetics

Details

Title: Subtitle: High frequency of exon 15 deletion in the FANCA gene in Tunisian patients affected with Fanconi anemia disease: implication for diagnosis
Creators: Ahlem Amouri - Institut Pasteur de Tunis
Faten Talmoudi - Institut Pasteur de Tunis
Olfa Messaoud - Laboratoire de Génomique Biomédicale et Oncogénétique - Biomedical Genomics and Oncogenetics Laboratory
Catherine D d'Enghien - Department of tumor biology
Mariem B Rekaya - Laboratoire de Génomique Biomédicale et Oncogénétique - Biomedical Genomics and Oncogenetics Laboratory
Ines Allegui - Laboratoire de Génomique Biomédicale et Oncogénétique - Biomedical Genomics and Oncogenetics Laboratory
Héla Azaiez - Laboratoire de Génomique Biomédicale et Oncogénétique - Biomedical Genomics and Oncogenetics Laboratory
Rym Kefi - Laboratoire de Génomique Biomédicale et Oncogénétique - Biomedical Genomics and Oncogenetics Laboratory
Ahlem Abdelhak - Laboratoire de Génomique Biomédicale et Oncogénétique - Biomedical Genomics and Oncogenetics Laboratory
Sondes H Meseddi - Hedi Chaker Hospital [Sfax]
Lamia Torjemane - Department of Haematology and Transplantation
Monia Ouederni - Department of Peadiatric Immuno-Haematology
Fethi Mellouli - Department of Peadiatric Immuno-Haematology
Héla B Abid - Haematology Department
Lamia Aissaoui - Haematology Department
Mohamed Bejaoui - Department of Peadiatric Immuno-Haematology
Tarek B Othmen - Department of Haematology and Transplantation
Dominique S Lyonnet - Department of tumor biology
Jean Soulier - Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal [Paris]
Mongia Hachicha - Department of Pediatrics
Koussay Dellagi - Laboratoire de Transmission, Contrôle et Immunobiologie des Infections - Laboratory of Transmission, Control and Immunobiology of Infection
Sonia Abdelhak - Laboratoire de Génomique Biomédicale et Oncogénétique - Biomedical Genomics and Oncogenetics Laboratory
Tunisian Fanconi Anemia Study Group
Resource Type: Journal article
Publication Details: Molecular genetics & genomic medicine, Vol.2(2), pp.160-165
DOI: 10.1002/mgg3.55
PMID: 24689079
PMCID: PMC3960058
NLM abbreviation: Mol Genet Genomic Med
ISSN: 2324-9269
eISSN: 2324-9269
Publisher: Wiley
Language: English
Date published: 03/2014
Academic Unit: Otolaryngology
Record Identifier: 9984384759902771

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