Exome sequencing identifies PEX6 mutations in three cases diagnosed with Retinitis Pigmentosa and hearing impairment.

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Exome sequencing identifies PEX6 mutations in three cases diagnosed with Retinitis Pigmentosa and hearing impairment.

Molecular vision - 1 Jan 2020

García-García Gema, Sanchez-Navarro Iker, Aller Elena, Jaijo Teresa, Fuster-Garcia Carla, Rodríguez-Munoz Ana, Vallejo Elena, Tellería Juan José, Vázquez Selma, Beltrán Sergi, Derdak Sophia, Zurita Olga, Villaverde-Montero Cristina, Avila-Fernández Almudena, Corton Marta, Blanco-Kelly Fiona, Hakonarson Hakon, Millán José M, Ayuso Carmen

Abstract excerpt

Purpose: The aim of the present work is the molecular diagnosis of three patients with deafness and retinal degeneration. Methods: Three patients from two unrelated families were initially analyzed with custom gene panels for Usher genes, non-syndromic hearing loss, or inherited syndromic retinopathies and further investigated by means of clinical or whole exome sequencing. Results: The study allowed us to detect...

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PMID: 32214787
PMCID: PMC7090270

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