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Identification of 14 novel mutations in the long isoform of USH2A in Spanish patients with Usher syndrome type II
  1. E Aller1,
  2. T Jaijo1,
  3. M Beneyto1,
  4. C Nájera2,
  5. S Oltra1,
  6. C Ayuso3,
  7. M Baiget4,
  8. M Carballo5,
  9. G Antiñolo6,
  10. D Valverde7,
  11. F Moreno8,
  12. C Vilela9,
  13. D Collado10,
  14. H Pérez-Garrigues10,
  15. A Navea11,
  16. J M Millán1
  1. 1Unidad de Genética, Hospital La Fe, Valencia, Spain
  2. 2Departamento de Genética, Universitat de Valencia, Valencia
  3. 3Departamento de Genética, Fundación Jiménez Díaz, Madrid, Spain
  4. 4Unidad de Genética Molecular, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain
  5. 5Laboratori, Hospital de Terrassa, Barcelona
  6. 6Departamento de Genética, Hospital Virgen del Rocío, Sevilla, Spain
  7. 7Departamento de Genética, Universidad de A Coruña, A Coruña, Spain
  8. 8Departamento de Genética Molecular, Hospital Ramón y Cajal, Madrid
  9. 9Servicio de Neurofisiología, Hospital La Fe, Valencia
  10. 10Servicio de Otorrinolaringología, Hospital La Fe, Valencia
  11. 11Fundación Oftalmológica del Mediterráneo, Valencia
  1. Correspondence to:
 J M Millán
 Unit of Genetics, Hospital La Fe, Avda Campanar, 21, 46009 Valencia, Spain; millan_jos{at}gva.es

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.

  • PCR, polymerase chain reaction
  • USH, Usher syndrome

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Footnotes

  • Competing interests: None declared.

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