Toward the Mutational Landscape of Autosomal Dominant Retinitis Pigmentosa: A Comprehensive Analysis of 258 Spanish Families

Investigative Ophthalmology & Visual Science
Inmaculada Martin-MeridaCarmen Ayuso

Abstract

To provide a comprehensive overview of the molecular basis of autosomal dominant retinitis pigmentosa (adRP) in Spanish families. Thus, we established the molecular characterization rate, gene prevalence, and mutational spectrum in the largest European cohort reported to date. A total of 258 unrelated Spanish families with a clinical diagnosis of RP and suspected autosomal dominant inheritance were included. Clinical diagnosis was based on complete ophthalmologic examination and family history. Retrospective and prospective analysis of Spanish adRP families was carried out using a combined strategy consisting of classic genetic techniques and next-generation sequencing (NGS) for single-nucleotide variants and copy number variation (CNV) screening. Overall, 60% of our families were genetically solved. Interestingly, 3.1% of the cohort carried pathogenic CNVs. Disease-causing variants were found in an autosomal dominant gene in 55% of the families; however, X-linked and autosomal recessive forms were also identified in 3% and 2%, respectively. Four genes (RHO, PRPF31, RP1, and PRPH2) explained up to 62% of the solved families. Missense changes were most frequently found in adRP-associated genes; however, CNVs represented a releva...Continue Reading

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Citations

Apr 13, 2019·Clinical & Experimental Ophthalmology·Johannes BirtelPeter Charbel Issa
May 28, 2019·International Journal of Molecular Sciences·Michalitsa DiakatouVasiliki Kalatzis
Nov 20, 2019·Ophthalmic Genetics·Arif O KhanAmal Mohamed Al Teneiji
Mar 25, 2019·Human Genetics·Morgane BunelPascale Quignon
Aug 7, 2020·Journal of Computational Chemistry·Erix W Hernández-RodríguezJulio Caballero
Feb 5, 2021·Human Mutation·Christina ZeitzIsabelle Audo
Feb 19, 2021·Frontiers in Cell and Developmental Biology·Ting XiaoYang Li
Feb 10, 2020·The Journal of Molecular Diagnostics : JMD·Ana Rodríguez-MuñozJosé M Millán

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