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

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

SUBMITTER: Khalat N 

PROVIDER: S-EPMC10265042 | biostudies-literature | 2023 Jun

REPOSITORIES: biostudies-literature