Identification of a primarily neurological phenotypic expression of xeroderma pigmentosum complementation group A in a Tunisian family.

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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Contributor : Institut Pasteur Tunis <>
Submitted on : Thursday, July 28, 2011 - 11:27:25 AM
Last modification on : Sunday, June 2, 2019 - 10:08:07 AM

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O. Messaoud, M. Ben Rekaya, R. Kefi, S. Chebel, A. Boughammoura-Bouatay, et al.. Identification of a primarily neurological phenotypic expression of xeroderma pigmentosum complementation group A in a Tunisian family.. British Journal of Dermatology, Wiley, 2010, 162 (4), pp.883-6. ⟨10.1111/j.1365-2133.2010.09646.x⟩. ⟨pasteur-00612157⟩

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