Identification of two rare variants (G-->A at nucleotide 721; C-->T at nucleotide 5200) in the rhodopsin gene. Mutations in brief no. 187. Online.

Autores de IIS La Fe

• 

  José María Millán Salvador

  Autor

• Carmen Najera Mortes

  Autor

• Magdalena Beneyto Juan

  Autor

• Carmen Ayuso Garcia

  Autor

Participantes ajenos a IIS La Fe

• Trujillo MJ
• García-Sandoval B
• Rodriguez de Alba M
• Sanz R

Abstract

The authors report two new rare DNA sequence variants in the Rhodopsin gene. This gene is involved in the pathogenesis of some retinal hereditary disorders as Retinitis Pigmentosa. These rare variants are G-->A at nucleotide 721 of the non-coding region and C-->T at nucleotide 5200 within codon 323 which does not alter the aminoacid cysteine. Therefore, they are not implicated in the development of the Retinitis Pigmentosa disease.