title: c.1643_1644delTG XPC mutation is more frequent in Moroccan patients with xeroderma pigmentosum.
abstract: Xeroderma pigmentosum is a rare autosomal recessive disease characterized by hypersensitivity to UV light which is due to alterations of the nucleotide excision repair pathway. Eight genes (XPA to XPG and XPV) are responsible for the disease. Among them, the XPC gene is known to be the most mutated in Mediterranean patients. The aim of this study was to determine the frequency of the most common XPC mutation and describe the clinical features of Moroccan patients with xeroderma pigmentosum. Twenty four patients belonging to 21 unrelated Moroccan families and 58 healthy subjects were investigated. After clinical examination, the screening for the c.1643_1644delTG (p.Val548AlafsX25) mutation in the XPC gene was performed by PCR and automated sequencing of exon 9 in all patients and controls. The molecular analysis showed that among the 24 patients, 17 were homozygous for the c.1643_1644delTG mutation and all their tested parents were heterozygous, whereas the others (7 patients) did not carry the mutation. The frequency of this mutation was estimated to be 76.19 % (16/21 families). None of the 58 healthy individuals carried this mutation. In addition, clinical investigation showed that the majority of the patients bearing this mutation have the same clinical features. Our results revealed that the p.Val548AlafsX25 mutation is the major cause (76.19 %) of xeroderma pigmentosum in Moroccan families. This would have an important impact on improving management of patients and their relatives.
authors.affiliation: Laboratoire de Génétique Moléculaire Humaine, Département de la Recherche Scientifique, Institut Pasteur du Maroc, 1 Place Louis Pasteur, 20360, Casablanca, Morocco.
authors.forename: Mohamed Amine
authors.initials: MA
authors.lastname: Senhaji
authors.affiliation: Laboratoire de Génétique Moléculaire Humaine, Département de la Recherche Scientifique, Institut Pasteur du Maroc, 1 Place Louis Pasteur, 20360, Casablanca, Morocco.
authors.forename: Omar
authors.initials: O
authors.lastname: Abidi
authors.affiliation: Laboratory of Human Genetics and Molecular Pathology, Faculty of medicine, Hassan II University, Casablanca, Morocco.
authors.forename: Sellama
authors.initials: S
authors.lastname: Nadifi
authors.affiliation: Department of Dermatology, Hospital University Ibn Rochd, Casablanca, Morocco.
authors.forename: Hakima
authors.initials: H
authors.lastname: Benchikhi
authors.affiliation: Department of Dermatology, Hospital University Ibn Rochd, Casablanca, Morocco.
authors.forename: Khadija
authors.initials: K
authors.lastname: Khadir
authors.affiliation: Laboratory of Biomedical Genomics and Oncogenetics, Institut Pasteur de Tunis, Tunis, Tunisia.
authors.forename: Mariem
authors.initials: M
authors.lastname: Ben Rekaya
authors.affiliation: Laboratoire de Génétique Moléculaire Humaine, Département de la Recherche Scientifique, Institut Pasteur du Maroc, 1 Place Louis Pasteur, 20360, Casablanca, Morocco.
authors.forename: Abdelmajid
authors.initials: A
authors.lastname: Eloualid
authors.affiliation: Laboratory of Biomedical Genomics and Oncogenetics, Institut Pasteur de Tunis, Tunis, Tunisia.
authors.forename: Olfa
authors.initials: O
authors.lastname: Messaoud
authors.affiliation: Laboratory of Biomedical Genomics and Oncogenetics, Institut Pasteur de Tunis, Tunis, Tunisia.
authors.forename: Sonia
authors.initials: S
authors.lastname: Abdelhak
authors.affiliation: Laboratoire de Génétique Moléculaire Humaine, Département de la Recherche Scientifique, Institut Pasteur du Maroc, 1 Place Louis Pasteur, 20360, Casablanca, Morocco. hamid.barakat@pasteur.ma.
authors.forename: Abdelhamid
authors.initials: A
authors.lastname: Barakat
mesh_terms: D000293:Adolescent; D000328:Adult; D044383:Black People / Q000235:genetics*; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007223:Infant; D008297:Male; D009018:Morocco / Q000453:epidemiology; D010641:Phenotype; D016133:Polymerase Chain Reaction; D017384:Sequence Deletion; D014983:Xeroderma Pigmentosum / Q000208:ethnology / Q000235:genetics*; D055815:Young Adult
chemical_list: D004268:DNA-Binding Proteins; C086984:XPC protein, human