Mutational founder effect in recessive dystrophic epidermolysis bullosa families from Southern Tunisia

Autor: Nizar Ben Halim, Mbarka Bchetnia, Khaled Lasram, Daniele Castiglia, Nadia Laroussi, Sonia Abdelhak, Lilia Romdhane, Rym Kefi, Mounira Meddeb Cherif, Houyem Ouragini, Mohamed Samir Boubaker, Hamida Turki, Ahlem Sabrine Ben Brick, Alain Hovnanian, Salaheddine Marrakchi, Hela Mesrati
Přispěvatelé: Laboratoire de Génomique Biomédicale et Oncogénétique - Biomedical Genomics and Oncogenetics Laboratory (LR11IPT05), Université de Tunis El Manar (UTM)-Institut Pasteur de Tunis, Réseau International des Instituts Pasteur (RIIP)-Réseau International des Instituts Pasteur (RIIP), Department of Dermatology, Hedi Chaker Hospital [Sfax], Laboratory of Medical Genetics, Laboratory of Molecular and Cell Biology, Istituto Dermopatico dell'Immacolata (IRCCS), Génétique et épigénétique des maladies métaboliques, neurosensorielles et du développement (Inserm U781), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Imagine - Institut des maladies génétiques (IMAGINE - U1163), CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), This work was supported by the Tunisian Ministry of Higher Education and Scientific Research (Laboratory on ‘‘Biomedical Genomics and Oncogenetics’’ LR11IPT05) and the Tunisian Ministry of Public Health, Laboratoire de Génomique Biomédicale et Oncogénétique - Biomedical Genomics and Oncogenetics Laboratory ( LR11IPT05 ), Université Tunis El Manar ( UTM ) -Institut Pasteur de Tunis-Réseau International des Instituts Pasteur ( RIIP ), Hedi Chaker Hospital, Istituto Dermopatico dell'Immacolata ( IRCCS ), Génétique et épigénétique des maladies métaboliques, neurosensorielles et du développement ( Inserm U781 ), Université Paris Descartes - Paris 5 ( UPD5 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ), Imagine - Institut des maladies génétiques ( IMAGINE - U1163 ), Université Paris Descartes - Paris 5 ( UPD5 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Centre National de la Recherche Scientifique ( CNRS ), Institut Pasteur de Tunis, Réseau International des Instituts Pasteur (RIIP)-Réseau International des Instituts Pasteur (RIIP)-Université Tunis El Manar (UTM), Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)
Jazyk: angličtina
Rok vydání: 2014
Předmět:
Male
[SDV]Life Sciences [q-bio]
DNA Mutational Analysis
MESH: Founder Effect
030207 dermatology & venereal diseases
Consanguinity
0302 clinical medicine
Recessive dystrophic epidermolysis bullosa
COL7A1
MESH : Epidermolysis Bullosa Dystrophica/genetics
MESH : Female
MESH : Skin/pathology
MESH: DNA Mutational Analysis
MESH : Collagen Type VII/genetics
Skin
Genetics
0303 health sciences
MESH: Epidermolysis Bullosa Dystrophica/genetics
MESH: Collagen Type VII/genetics
General Medicine
Founder effect
Novel mutations
MESH: Epidermolysis Bullosa Dystrophica/pathology
3. Good health
Epidermolysis Bullosa Dystrophica
Pedigree
[ SDV.GEN.GPO ] Life Sciences [q-bio]/Genetics/Populations and Evolution [q-bio.PE]
Codon
Nonsense
Mutation (genetic algorithm)
Carcinoma
Squamous Cell
Female
MESH : Mutation
MESH: Tunisia
Collagen Type VII
Tunisia
MESH: Mutation
MESH: Pedigree
MESH : Male
MESH : Founder Effect
Genes
Recessive
Dermatology
MESH : DNA Mutational Analysis
Biology
MESH : Epidermolysis Bullosa Dystrophica/pathology
MESH : Carcinoma
Squamous Cell/complications
03 medical and health sciences
MESH : Tunisia
MESH : Consanguinity
Humans
Allele
Gene
MESH : Haplotypes
Alleles
MESH: Genes
Recessive
030304 developmental biology
MESH: Consanguinity
MESH: Skin/pathology
MESH: Codon
Nonsense/genetics
MESH: Humans
[SDV.GEN.GPO]Life Sciences [q-bio]/Genetics/Populations and Evolution [q-bio.PE]
[ SDV ] Life Sciences [q-bio]
MESH: Alleles
Haplotype
MESH : Humans
MESH : Genes
Recessive
MESH: Haplotypes
MESH: Male
MESH : Codon
Nonsense/genetics
MESH: Carcinoma
Squamous Cell/complications
Haplotypes
MESH : Pedigree
Mutation
MESH : Alleles
[ SDV.MHEP.DERM ] Life Sciences [q-bio]/Human health and pathology/Dermatology
Recessive dystrophic epidermolysis bullosa severe generalized
MESH: Female
[SDV.MHEP.DERM]Life Sciences [q-bio]/Human health and pathology/Dermatology
Zdroj: Archives of Dermatological Research
Archives of Dermatological Research, Springer Verlag, 2014, 306 (4), pp.405-11. ⟨10.1007/s00403-013-1421-y⟩
Archives of Dermatological Research, Springer Verlag, 2014, 306 (4), pp.405-11. 〈10.1007/s00403-013-1421-y〉
ISSN: 0340-3696
1432-069X
DOI: 10.1007/s00403-013-1421-y⟩
Popis: International audience; Dystrophic epidermolysis bullosa (DEB) is a group of heritable bullous skin disorders caused by mutations in the COL7A1 gene. One of the most severe forms of DEB is the severe generalized [recessive dystrophic epidermolysis bullosa (RDEB-SG)] subtype, which is inherited in an autosomal recessive manner. This subtype is most often due to COL7A1 mutations resulting in a premature termination codon on both alleles. We report here, the molecular investigation of 15 patients belonging to 14 nuclear families from the city of Sfax in Southern Tunisia, with clinical features of RDEB-SG complicated by squamous cell carcinoma in 3 patients. We identified two novel mutations, p.Val769LeufsX1 and p.Ala2297SerfsX91, in addition to one previously reported mutation (p.Arg2063Trp). The p.Val769LeufsX1 mutation was shared by 11 families and haplotype analysis indicated that it is a founder mutation. The p.Ala2297SerfsX91 mutation was a private mutation found in only one family. Together with the previously described recurrent mutations in Tunisia, screening for the founder p.Val769LeufsX1 mutation should provide a rapid molecular diagnosis tool for mutation screening in RDEB patients from Southern Tunisia and possibly from other Mediterranean populations sharing the same genetic background.
Databáze: OpenAIRE
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