title: 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.
authors.affiliation: 'Molecular Investigation of Genetic Orphan Diseases' Research Unit, Pasteur Institute of Tunis, BP 74, 13 Place Pasteur, 1002 Tunis Belvédère, Tunisia.
authors.forename: O
authors.initials: O
authors.lastname: Messaoud
authors.forename: M
authors.initials: M
authors.lastname: Ben Rekaya
authors.forename: R
authors.initials: R
authors.lastname: Kefi
authors.forename: S
authors.initials: S
authors.lastname: Chebel
authors.forename: A
authors.initials: A
authors.lastname: Boughammoura-Bouatay
authors.forename: H
authors.initials: H
authors.lastname: Bel Hadj Ali
authors.forename: N
authors.initials: N
authors.lastname: Gouider-Khouja
authors.forename: J
authors.initials: J
authors.lastname: Zili
authors.forename: M
authors.initials: M
authors.lastname: Frih-Ayed
authors.forename: I
authors.initials: I
authors.lastname: Mokhtar
authors.forename: S
authors.initials: S
authors.lastname: Abdelhak
authors.forename: M
authors.initials: M
authors.lastname: Zghal
mesh_terms: D000328:Adult; D003241:Consanguinity; D005260:Female; D056726:Genetic Association Studies; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009422:Nervous System Diseases / Q000235:genetics* / Q000378:metabolism; D010375:Pedigree; D010641:Phenotype; D014416:Tunisia; D014983:Xeroderma Pigmentosum / Q000235:genetics* / Q000378:metabolism; D051760:Xeroderma Pigmentosum Group A Protein / Q000235:genetics* / Q000378:metabolism; D055815:Young Adult
chemical_list: D051760:Xeroderma Pigmentosum Group A Protein