Identification of 14 novel mutations in the long isoform of USH2A in Spanish patients with Usher syndrome type II.

Autores de IIS La Fe

• Elena María Aller Mañas

  Autor

• Teresa Jaijo Sanchís

  Autor

• Magdalena Beneyto Juan

  Autor

• Carmen Najera Mortes

  Autor

• Juan Silvestre Oltra Soler

  Autor

• Carmen Ayuso Garcia

  Autor

• Herminio Pérez Garrigues

  Autor

• Amparo Navea Tejerina

  Autor

• 

  José María Millán Salvador

  Autor

Participantes ajenos a IIS La Fe

• Baiget M
• Carballo M
• Antiñolo G
• Valverde D
• Moreno F
• Vilela C
• Collado D

Abstract

Mutations in USH2A gene have been shown to be responsible for Usher syndrome type II, an autosomal recessive disorder characterised by hearing loss and retinitis pigmentosa. USH2A was firstly described as consisting of 21 exons, but 52 novel exons at the 3' end of the gene were recently identified. In this report, a mutation analysis of the new 52 exons of USH2A gene was carried out in 32 unrelated patients in which both disease-causing mutations could not be found after the screening of the first 21 exons of the USH2A gene. On analysing the new 52 exons, fourteen novel mutations were identified in 14 out of the 32 cases studied, including 7 missense, 5 frameshift, 1 duplication and a putative splice-site mutation.