Clinical profile and mutation analysis of xeroderma pigmentosum in Indian patients.
Indian J Dermatol Venereol Leprol
; 81(1): 16-22, 2015.
Article
em En
| MEDLINE
| ID: mdl-25566891
ABSTRACT
BACKGROUND:
Xeroderma pigmentosum (XP) is an autosomal recessive genetic disorder characterized by cutaneous and ocular photosensitivity and an increased risk of developing cutaneous neoplasms. Progressive neurological abnormalities develop in a quarter of XP patients.AIM:
To study the clinical profile and perform a mutation analysis in Indian patients with xeroderma pigmentosum.METHODS:
Ten families with 13 patients with XP were referred to our clinic over 2 years. The genes XPA, XPB and XPC were sequentially analyzed till a pathogenic mutation was identified.RESULTS:
Homozygous mutations in the XPA gene were seen in patients with moderate to severe mental retardation (6/10 families) but not in those without neurological features. Two unrelated families with a common family name and belonging to the same community from Maharashtra were found to have an identical mutation in the XPA gene, namely c.335_338delTTATinsCATAAGAAA (p.F112SfsX2). Testing of the XPC gene in two families with four affected children led to the identification of the novel mutations c.1243C>T or p.R415X and c.1677C>A or p.Y559X. In two families, mutations could not be identified in XPA, XPB and XPC genes.LIMITATION:
The sample size is small.CONCLUSION:
Indian patients who have neurological abnormalities associated with XP should be screened for mutations in the XPA gene.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Xeroderma Pigmentoso
/
DNA Helicases
/
Proteínas de Ligação a DNA
/
Proteína de Xeroderma Pigmentoso Grupo A
/
Deficiência Intelectual
Limite:
Adult
/
Child
/
Child, preschool
/
Female
/
Humans
/
Male
País/Região como assunto:
Asia
Idioma:
En
Revista:
Indian J Dermatol Venereol Leprol
Ano de publicação:
2015
Tipo de documento:
Article