Identification of LCK mutation in a family with atypical epidermodysplasia verruciformis with T-cell defects and virus-induced squamous cell carcinoma.
Br J Dermatol
; 175(6): 1204-1209, 2016 Dec.
Article
em En
| MEDLINE
| ID: mdl-27087313
ABSTRACT
BACKGROUND:
Inherited epidermodysplasia verruciformis (EV) is a rare skin disorder characterized by susceptibility to specific types of human papilloma virus (HPV) and is strongly associated with skin carcinomas. Inactivating mutations in EVER1/EVER2 account for most cases of EV. However, more phenotypes related to but distinct from EV have been reported with an immunodeficiency state but without EVER1/EVER2 mutation, and the genetic basis for these atypical EV cases is poorly understood.OBJECTIVES:
To identify the causative gene responsible for three siblings affected by atypical EV but without EVER1/EVER2 mutation.METHODS:
Whole-exome sequencing followed by Sanger sequencing was performed to identify the gene responsible for the patients with atypical EV enrolled in our study.RESULTS:
A homozygous splicing mutation was detected in LCK (c.188-2A>G). This mutation resulted in an exon 3 deletion T lymphocyte-specific protein tyrosine kinase isoform, which further led to frameshift mutation and subsequent mRNA decay.CONCLUSIONS:
We demonstrate a novel mutation in LCK in a family affected by atypical EV with T-cell defects, HPV infection and virus-induced malignancy, providing new clues in the understanding of host defences against HPV and better genetic counselling of patients with the EV phenotype.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Dermatopatias
/
Epidermodisplasia Verruciforme
/
DNA Recombinante
/
Proteína Tirosina Quinase p56(lck) Linfócito-Específica
/
Infecções por Papillomavirus
/
Mutação
Tipo de estudo:
Diagnostic_studies
Limite:
Adolescent
/
Adult
/
Female
/
Humans
/
Male
Idioma:
En
Revista:
Br J Dermatol
Ano de publicação:
2016
Tipo de documento:
Article
País de afiliação:
China