Your browser doesn't support javascript.
loading
A novel mutation in SPINK5 gene underlies a case of atypical Netherton syndrome.
Wang, Yu; Song, Hanqing; Yu, Lingling; Wu, Nan; Zheng, Xiaodong; Liang, Bo; Wang, Peiguang.
Afiliación
  • Wang Y; Department of Dermatology, The First Affiliated Hospital, Anhui Medical University, Hefei, China.
  • Song H; Institute of Dermatology, Anhui Medical University, Hefei, China.
  • Yu L; Key Laboratory of Dermatology, Anhui Medical University, Ministry of Education, Hefei, China.
  • Wu N; Provincial Laboratory of Inflammatory and Immune Mediated Diseases, Hefei, China.
  • Zheng X; Department of Dermatology, The First Affiliated Hospital, Anhui Medical University, Hefei, China.
  • Liang B; Institute of Dermatology, Anhui Medical University, Hefei, China.
  • Wang P; Key Laboratory of Dermatology, Anhui Medical University, Ministry of Education, Hefei, China.
Front Genet ; 13: 943264, 2022.
Article en En | MEDLINE | ID: mdl-36159989
Netherton syndrome (NS, OMIM #256500) is a rare autosomal recessive disease characterized by a triad of congenital ichthyosiform erythroderma (CIE) or ichthyosis linearis circumflexa (ILC), trichorrhexis invaginata (TI), and atopic predisposition. The disease is caused by a mutation in the SPINK5 gene (serine protease inhibitor of Kazal type 5) encoding LEKTI (lymphoepithelial Kazal type-related inhibitor). We performed whole-exome sequencing on one Chinese NS family and made genotype-phenotype correlation analysis on the patients clinically diagnosed with NS or congenital ichthyosis erythroderma. We identified a novel frameshift mutation c.2474_2475del (p.Glu825Glyfs*2) in the SPINK5 gene. The N-terminal mutations of LEKTI cause a severer phenotype, while the C-terminal mutations of LEKT1 are related to a milder phenotype. Our findings suggest that Netherton syndrome may be underestimated clinically, and our findings further expand the reservoir of SPINK5 mutations in Netherton syndrome.
Palabras clave
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Tipo de estudio: Prognostic_studies Idioma: En Revista: Front Genet Año: 2022 Tipo del documento: Article País de afiliación: China Pais de publicación: Suiza
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Tipo de estudio: Prognostic_studies Idioma: En Revista: Front Genet Año: 2022 Tipo del documento: Article País de afiliación: China Pais de publicación: Suiza