Identification of a primarily neurological phenotypic expression of xeroderma pigmentosum complementation group A in a Tunisian family.
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.
Messaoud
O
O
'Molecular Investigation of Genetic Orphan Diseases' Research Unit, Pasteur Institute of Tunis, BP 74, 13 Place Pasteur, 1002 Tunis Belvédère, Tunisia.
Ben Rekaya
M
M
Kefi
R
R
Chebel
S
S
Boughammoura-Bouatay
A
A
Bel Hadj Ali
H
H
Gouider-Khouja
N
N
Zili
J
J
Frih-Ayed
M
M
Mokhtar
I
I
Abdelhak
S
S
Zghal
M
M
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
D051760:Xeroderma Pigmentosum Group A Protein