Clinical profile and mutation analysis of xeroderma pigmentosum in Indian patients.
Indian J Dermatol Venereol Leprol
;
2015 Jan-Fer ; 81 (1): 16-22
Artículo
en Inglés
| IMSEAR
| ID: sea-154999
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:
Disponible
Índice:
IMSEAR (Asia Sudoriental)
Asunto principal:
Xerodermia Pigmentosa
/
Femenino
/
Humanos
/
Masculino
/
Familia
/
Niño
/
Adolescente
/
Efecto Fundador
/
Adulto
/
Mutación Missense
Tipo de estudio:
Estudio pronóstico
País/Región como asunto:
Asia
Idioma:
Inglés
Revista:
Indian J Dermatol Venereol Leprol
Año:
2015
Tipo del documento:
Artículo
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