Portal de investigación
Experience of targeted Usher exome sequencing as a clinical test.
Autores de IIS La Fe
Participantes ajenos a IIS La Fe
- Besnard T
- Baux D
- Vaché C
- Faugère V
- Larrieu L
- Léonard S
- Malcolm S
- Claustres M
- Roux AF
Grupos
Abstract
We show that massively parallel targeted sequencing of 19 genes provides a new and reliable strategy for molecular diagnosis of Usher syndrome (USH) and nonsyndromic deafness, particularly appropriate for these disorders characterized by a high clinical and genetic heterogeneity and a complex structure of several of the genes involved. A series of 71 patients including Usher patients previously screened by Sanger sequencing plus newly referred patients was studied. Ninety-eight percent of the variants previously identified by Sanger sequencing were found by next-generation sequencing (NGS). NGS proved to be efficient as it offers analysis of all relevant genes which is laborious to reach with Sanger sequencing. Among the 13 newly referred Usher patients, both mutations in the same gene were identified in 77% of cases (10 patients) and one candidate pathogenic variant in two additional patients. This work can be considered as pilot for implementing NGS for genetically heterogeneous diseases in clinical service.
Datos de la publicación
- ISSN/ISSNe:
- 2324-9269,
- Tipo:
- Article
- Páginas:
- 30-43
- DOI:
- 10.1002/mgg3.25
Molecular genetics & genomic medicine John Wiley and Sons Inc.
Documentos
- No hay documentos
Filiaciones
Keywords
- Bioinformatics; NSHL; Usher syndrome; next-generation sequencing; variant prioritization
Proyectos asociados
CARACTERIZACION MOLECULAR DE PACIENTES CON SINDROME DE USHER. ESTUDIO DE LOS GENES RESPONSABLES: CDH23 Y PCDH15 Y CANDIDATOS: WHRN, CXADR Y PDZK7
Investigador Principal: JOSÉ MARÍA MILLÁN SALVADOR
PI07/0558 . INSTITUTO DE SALUD CARLOS III; FUNDACIÓN PARA LA INVESTIGACIÓN DEL HOSPITAL UNIVERSITARIO LA FE DE LA COMUNIDAD VALENCIANA . 2008
MOLECULAR MAECHANISMS OF RETINAL DEGENERATION IN HUMANS WITH RETINITIS PIGMENTOSA. ROLE OF INFLAMMATION, OXIDATIVE STRESS AND GLIAL ACTIVATION
CP09/00118 (MIGUEL SERVET) . INSTITUTO DE SALUD CARLOS III; FUNDACIÓN PARA LA INVESTIGACIÓN DEL HOSPITAL UNIVERSITARIO LA FE DE LA COMUNIDAD VALENCIANA . 2010
RED DE BIOBANCOS (BIOBANCOS)
RD09/0076/00021 . INSTITUTO DE SALUD CARLOS III; FUNDACIÓN PARA LA INVESTIGACIÓN DEL HOSPITAL UNIVERSITARIO LA FE DE LA COMUNIDAD VALENCIANA . 2010
CARACTERIZACION MOLECULAR EN PACIENTES CON SINDROME DE USHER TIPO I MEDIANTE LA APLICACION DE LAS TECNICAS DE SECUENCIACION Y CGH-ARRAY EN GENES RESPONSABLES Y GENES CANDIDATOS
FPU_AP2009-3344 . MINISTERIO DE EDUCACION, CULTURA Y DEPORTE; FUNDACIÓN PARA LA INVESTIGACIÓN DEL HOSPITAL UNIVERSITARIO LA FE DE LA COMUNIDAD VALENCIANA . 2010
MOLECULAR MECHANISMS OF PROTEIN AGGREGATION IN VITRO AND IN VIVO MODELS OF HUNTINGTON DISEASE
Investigador Principal: RAFAEL VÁZQUEZ MANRIQUE
CP11/00090 . INSTITUTO DE SALUD CARLOS III; FUNDACIÓN PARA LA INVESTIGACIÓN DEL HOSPITAL UNIVERSITARIO LA FE DE LA COMUNIDAD VALENCIANA . 2012
TRANSLATIONAL RESEARCH, EXPERIMENTAL MEDICINE AND THERAPEUTICS ON CHARCOT-MARIE-TOOTH. TREAT-CMT
Investigador Principal: JOSÉ MARÍA MILLÁN SALVADOR
TREAT-CMT . CIBER ENFERMEDADES RARAS; FUNDACIÓN PARA LA INVESTIGACIÓN DEL HOSPITAL UNIVERSITARIO LA FE DE LA COMUNIDAD VALENCIANA . 2012
IDENTIFICACIÓN DE NUEVOS GENES Y MECANISMOS MOLECULARES EN EL SÍNDROME DE USHER Y SU TRASLACIÓN AL DIAGNÓSTICO.
Investigador Principal: JOSÉ MARÍA MILLÁN SALVADOR
PI13/00638 . INSTITUTO DE SALUD CARLOS III . 2014
PLATAFORMA DE INNOVACION EN TECNOLOGIAS MEDICAS Y SANITARIAS - ITEMAS
Investigador Principal: JOSÉ VICENTE CASTELL RIPOLL
PT13/0006/0020 . INSTITUTO DE SALUD CARLOS III . 2014
COMPREHENSIVE, INTEGRATIVE AND GENOMIC APPROACH TO THE UNDERSTANDING AND TREATMENT OF CANCER AND LEUKEMIA.
Investigador Principal: MIGUEL ÁNGEL SANZ ALONSO
PIE13/00046 . INSTITUTO DE SALUD CARLOS III; FUNDACIÓN PARA LA INVESTIGACIÓN DEL HOSPITAL UNIVERSITARIO LA FE DE LA COMUNIDAD VALENCIANA . 2014
Cita
Besnard T,García G,Baux D,Vaché C,Faugère V,Larrieu L,Léonard S,Millan JM,Malcolm S,Claustres M,Roux AF. Experience of targeted Usher exome sequencing as a clinical test. Mol Genet Genomic Med. 2014. 2. (1):p. 30-43.