The contribution of GPR98 and DFNB31 genes to a Spanish Usher syndrome type 2 cohort.

Autores de IIS La Fe

• Gema García García

  Autor

• Elena María Aller Mañas

  Autor

• 

  José María Millán Salvador

  Autor

Participantes ajenos a IIS La Fe

• Besnard T
• Baux D
• Vaché C
• Malcolm S
• Claustres M
• Roux AF

Grupos

• 

  Biomedicina Molecular, Celular y Genómica

Abstract

Usher syndrome type 2 (USH2) is an autosomal recessive disease characterized by moderate to severe hearing loss and retinitis pigmentosa. To date, three disease-causing genes have been identified, USH2A, GPR98, and DFNB31, of which USH2A is clearly the major contributor. The aim of this work was to determine the contribution of GPR98 and DFNB31 genes in a Spanish cohort of USH2A negative patients using exhaustive molecular analysis, including sequencing, dosage, and splicing analysis.