Your browser doesn't support javascript.
loading
Identification of LCK mutation in a family with atypical epidermodysplasia verruciformis with T-cell defects and virus-induced squamous cell carcinoma.
Li, S-L; Duo, L-N; Wang, H-J; Dai, W; Zhou, E-Y H; Xu, Y-N; Zhao, T; Xiao, Y-Y; Xia, L; Yang, Z-H; Zheng, L-T; Hu, Y-Y; Lin, Z-M; Wang, H-N; Gao, T-W; Ma, C-L; Yang, Y; Li, C-Y.
Afiliación
  • Li SL; Department of Dermatology, Xijing Hospital, Fourth Military Medical University, Xi'an, Shaanxi, China.
  • Duo LN; Department of Dermatology, Peking University First Hospital, Beijing, China.
  • Wang HJ; Beijing Key Laboratory of Molecular Diagnosis on Dermatoses, Beijing, China.
  • Dai W; Peking-Tsinghua Center for Life Sciences, Beijing, China.
  • Zhou EH; Academy for Advanced Interdisciplinary Studies, Peking University, Beijing, China.
  • Xu YN; Department of Dermatology, Peking University First Hospital, Beijing, China.
  • Zhao T; Beijing Key Laboratory of Molecular Diagnosis on Dermatoses, Beijing, China.
  • Xiao YY; Peking-Tsinghua Center for Life Sciences, Beijing, China.
  • Xia L; Academy for Advanced Interdisciplinary Studies, Peking University, Beijing, China.
  • Yang ZH; Department of Dermatology, Xijing Hospital, Fourth Military Medical University, Xi'an, Shaanxi, China.
  • Zheng LT; Department of Dermatology, Peking University First Hospital, Beijing, China.
  • Hu YY; Beijing Key Laboratory of Molecular Diagnosis on Dermatoses, Beijing, China.
  • Lin ZM; Department of Dermatology, Xijing Hospital, Fourth Military Medical University, Xi'an, Shaanxi, China.
  • Wang HN; Department of Dermatology, Xijing Hospital, Fourth Military Medical University, Xi'an, Shaanxi, China.
  • Gao TW; Department of Dermatology, Xijing Hospital, Fourth Military Medical University, Xi'an, Shaanxi, China.
  • Ma CL; Department of Dermatology, General Hospital of Ningxia Medical University, Yinchuan, Ning Xia, China.
  • Yang Y; Department of Radiology, General Hospital of Ningxia Medical University, Yinchuan, Ning Xia, China.
  • Li CY; Novogene Bioinformatics Technology Co., Ltd, Beijing, China.
Br J Dermatol ; 175(6): 1204-1209, 2016 Dec.
Article en En | MEDLINE | ID: mdl-27087313
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.
Asunto(s)

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedades de la Piel / Epidermodisplasia Verruciforme / ADN Recombinante / Proteína Tirosina Quinasa p56(lck) Específica de Linfocito / Infecciones por Papillomavirus / Mutación Tipo de estudio: Diagnostic_studies Límite: Adolescent / Adult / Female / Humans / Male Idioma: En Revista: Br J Dermatol Año: 2016 Tipo del documento: Article País de afiliación: China Pais de publicación: Reino Unido

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedades de la Piel / Epidermodisplasia Verruciforme / ADN Recombinante / Proteína Tirosina Quinasa p56(lck) Específica de Linfocito / Infecciones por Papillomavirus / Mutación Tipo de estudio: Diagnostic_studies Límite: Adolescent / Adult / Female / Humans / Male Idioma: En Revista: Br J Dermatol Año: 2016 Tipo del documento: Article País de afiliación: China Pais de publicación: Reino Unido