Novel mutations in the USH1C gene in Usher syndrome patients.

Autors de IIS La Fe

• Maria Jose Aparisi Navarro

  Autor

• Gema García García

  Autor

• Teresa Jaijo Sanchís

  Autor

• Regina Rodrigo Nicolás

  Autor

• Herminio Pérez Garrigues

  Autor

• Elena María Aller Mañas

  Autor

• 

  José María Millán Salvador

  Autor

Autors aliens a IIS La Fe

• Graziano C
• Seri M
• Simsek T
• Simsek E
• Bernal S
• Baiget M

Grups d'Investigació

• Biomedicina Molecular, Celular y Genómica

  

  Leader

  José María Millán Salvador

• Unidad mixta de investigación en enfermedades raras (CIPF)

  

  Leader

  José María Millán Salvador

Abstract

Usher syndrome type I (USH1) is an autosomal recessive disorder characterized by severe-profound sensorineural hearing loss, retinitis pigmentosa, and vestibular areflexia. To date, five USH1 genes have been identified. One of these genes is Usher syndrome 1C (USH1C), which encodes a protein, harmonin, containing PDZ domains. The aim of the present work was the mutation screening of the USH1C gene in a cohort of 33 Usher syndrome patients, to identify the genetic cause of the disease and to determine the relative involvement of this gene in USH1 pathogenesis in the Spanish population.