Novel mutations in the USH1C gene in Usher syndrome patients

Jose Aparisi M., Garcia-Garcia G., Jaijo T., Rodrigo R., Graziano C., Seri M., ...Daha Fazla

MOLECULAR VISION, cilt.16, ss.2948-2954, 2010 (SCI-Expanded) identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 16
  • Basım Tarihi: 2010
  • Dergi Adı: MOLECULAR VISION
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.2948-2954
  • Eskişehir Osmangazi Üniversitesi Adresli: Evet

Özet

Purpose: 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.