First genetic characterization of Xeroderma pigmentosum in Libya: High frequency of XP‐C founder mutation

Autor: Najlaa Khalat, Olfa Messaoud, Mariem Ben Rekaya, Mariem Chargui, Mohamed Zghal, Bashir Zendah, Najat Saqer, Mourad Mokni, Sonia Abdelhak, Othman A. Mohamed
Jazyk: angličtina
Rok vydání: 2023
Předmět:
Zdroj: Molecular Genetics & Genomic Medicine, Vol 11, Iss 6, Pp n/a-n/a (2023)
Druh dokumentu: article
ISSN: 2324-9269
DOI: 10.1002/mgg3.2158
Popis: Abstract Background Xeroderma pigmentosum is an autosomal recessive disease characterized by a high sensitivity to UV radiations. The disease is clinically and genetically heterogeneous, thus making accurate early clinical diagnosis difficult. Although the disease is considered rare worldwide, previous studies have shown that it is more frequent in Maghreb countries. So far, no genetic study has been published on Libyan patients, except three reports limited to clinical descriptions. Methods Our study, which represents the first genetic characterization of XP in Libya, was conducted on 14 unrelated families including 23 Libyan XP patients with a consanguinity rate of 93%. Blood samples were collected from 201 individuals including patients and their relatives. Patients were screened for founder mutations already described in Tunisia. Results The two founder Maghreb XP mutations, XPA p.Arg228* associated with the neurological form and XPC p.Val548Alafs*25 in patients with only cutaneous manifestations, were homozygously identified. The latter was predominant (19 of 23 patients). In addition, another XPC homozygous mutation (p.Arg220*) has been identified in only one patient. For the remaining patient, the absence of founder XPA, XPC, XPD, and XPG mutations suggests mutational heterogeneity of XP in Libya. Conclusion Identification of common mutations with other Maghreb populations is in favor of a common ancestor in North‐African populations.
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