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Updated: Jun 15, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
Published on: August 20, 2019
Identification of a primarily neurological phenotypic expression of xeroderma pigmentosum complementation group A in
O Messaoud1, M Ben Rekaya, R Kefi
1'Molecular Investigation of Genetic Orphan Diseases' Research Unit, Pasteur Institute of Tunis, BP 74, 13 Place Pasteur, 1002 Tunis Belvédère, Tunisia.
Abstract:
Xeroderma pigmentosum (XP) is a rare genodermatosis predisposing to skin cancers. The disease is classified into eight groups. Among them, XP group A (XP-A) is characterized by the presence of neurological abnormalities in addition to cutaneous symptoms. In the present study, we report a particular family with XP-A in which some members showed an atypical clinical presentation, i.e. unexplained neurological abnormalities with discrete skin manifestations. Molecular investigation allowed identification of a novel XPA mutation and complete phenotype-genotype correlation for this new phenotypic expression of XP-A.
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