Tumeurs cutanées au cours du xeroderma pigmentosum au Maroc

Moussaid, Laila; Benchikhi, H.; Boukind, E.H.; Sqalli, S; Mouaki, N.; Kadiri, F.; Lakhdar, H.

doi:10.1016/s0151-9638(04)93538-7

Cited by 26 publications

(15 citation statements)

References 7 publications

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“…Xeroderma pigmentosum complementation group C (MIM ID #278720) is caused by mutations in the XPC gene (MIMID ∗ 613208) and the most frequent mutation is a 2 bp deletion (c.1643_1644delTG, p.Val548AlafsX25) [ 13 ]. This gene is located on chromosome 3 (3p25) and contains 16 exons encoding for xeroderma pigmentosum group C (XPC) protein (GenBank accession number AC090645).…”

Section: Introductionmentioning

confidence: 99%

Diagnosis ofXeroderma PigmentosumGroups A and C by Detection of Two Prevalent Mutations in West Algerian Population: A Rapid Genotyping Tool for the FrequentXPCMutation c.1643_1644delTG

Bensenouci

Louhibi

Verneuil

et al. 2016

BioMed Research International

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Xeroderma pigmentosum (XP) is a rare autosomal recessive disorder. Considering that XP patients have a defect of the nucleotide excision repair (NER) pathway which enables them to repair DNA damage caused by UV light, they have an increased risk of developing skin and eyes cancers. In the present study, we investigated the involvement of the prevalent XPA and XPC genes mutations—nonsense mutation (c.682C>T, p.Arg228X) and a two-base-pair (2 bp) deletion (c.1643_1644delTG or p.Val548Ala fsX25), respectively—in 19 index cases from 19 unrelated families in the West of Algeria. For the genetic diagnosis of XPA gene, we proceeded to PCR-RFLP. For the XPC gene, we validated a routine analysis which includes a specific amplification of a short region surrounding the 2 bp deletion using a fluorescent primer and fragment sizing (GeneScan size) on a sequencing gel. Among the 19 index cases, there were 17 homozygous patients for the 2 bp deletion in the XPC gene and 2 homozygous patients carrying the nonsense XPA mutation. Finally, XPC appears to be the major disease-causing gene concerning xeroderma pigmentosum in North Africa. The use of fragment sizing is the simplest method to analyze this 2 bp deletion for the DNA samples coming from countries where the mutation c.1643_1644delTG of XPC gene is prevalent.

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Section: Introductionmentioning

confidence: 99%

Diagnosis ofXeroderma PigmentosumGroups A and C by Detection of Two Prevalent Mutations in West Algerian Population: A Rapid Genotyping Tool for the FrequentXPCMutation c.1643_1644delTG

Bensenouci

Louhibi

Verneuil

et al. 2016

BioMed Research International

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“…In our series, 27.5% of patients developed ocular malignancies. Moussaid et al [25] found that 25.3% of patients presented ocular tumors. North African series reported a rate of approaching 25% [26,27].…”

Section: Discussionmentioning

confidence: 99%

Clinical and molecular characterization of Xeroderma pigmentosum in Moroccan population: a case series of 40 patients

Abbassi

Sayel

Senhaji

et al. 2022

Egypt J Med Hum Genet

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Background Xeroderma pigmentosum (XP) is a rare autosomal recessive skin disorder characterized by hyperpigmentation, premature skin aging, ocular and cutaneous photosensitivity with increased risk of skin tumors. XP is caused by mutations in DNA repair genes that protect cells from UV-induced DNA damage. The current study aims to investigate, on clinical and genetic basis, Moroccan XP patients. We explored by direct sequencing the involvement of the prevalent XPA and XPC genes mutations: nonsense mutation (c.682C>T, p.Arg228X) and a two-base-pair (2 bp) deletion (c.1643 1644delTG or p.Val548Ala fsX25), respectively, in 40 index cases from 37 unrelated families in Moroccan population. Results Early skin and ocular manifestations were detected with high rate of malignancy. Cutaneous lesions progressed to malignant skin tumor in 70% of cases. Ocular tumors were also observed in 11 patients including BCC in eight cases, SCC in three cases and melanoma in four cases. Among the 40 patients, there were 20 homozygous cases for the 2 bp deletion in the XPC gene and 9 homozygous cases carrying the nonsense XPA mutation. Conclusion These findings obtained in the present study revealed that the XPC gene mutation (c.1643 1644delTG, p.Val548AlafsX25) is the major cause of Xeroderma pigmentosum in our population. The c.682C>T (p.Arg228X) mutation is relatively associated with moderate phenotype in XP group A Moroccan families. This result will also contribute to improving the molecular diagnosis of XP disease and will have a significant impact on improving the care of Moroccan patients and their relatives.

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“…Le traitement chez cette patiente a associé deux antimitotiques (5 fluorouracile et cisplatine). Cette prise en charge par ces antimitotiques a trouvé ses limites étant donné le caractère subintrant de la survenue des cancers chez le patient XP [14]. Certains traitements sont préventifs pour la survenue de cancers cutanés et consistent à l'utilisation de l'isotrétinoïne [15].…”

Section: Discussionunclassified

Xeroderma pigmentosum: Squamous cell carcinoma infiltrating and disfiguring facial, in a girl of 3 years and a half

Salissou¹,

Doulla²,

Harouna³

et al. 2017

Our Dermatol Online

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Tumeurs cutanées au cours du xeroderma pigmentosum au Maroc

Cited by 26 publications

References 7 publications

Diagnosis ofXeroderma PigmentosumGroups A and C by Detection of Two Prevalent Mutations in West Algerian Population: A Rapid Genotyping Tool for the FrequentXPCMutation c.1643_1644delTG

Diagnosis ofXeroderma PigmentosumGroups A and C by Detection of Two Prevalent Mutations in West Algerian Population: A Rapid Genotyping Tool for the FrequentXPCMutation c.1643_1644delTG

Clinical and molecular characterization of Xeroderma pigmentosum in Moroccan population: a case series of 40 patients

Xeroderma pigmentosum: Squamous cell carcinoma infiltrating and disfiguring facial, in a girl of 3 years and a half

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