Whole-Exome Sequencing of 21 Families: Candidate Genes for Early-Onset High Myopia

International Journal of Molecular Sciences · 25 authors, 6 centres

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AGENT 01 · STRUCTURED SUMMARY

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TL;DR

No significant association was found between myopia severity and gender.

Full summary

286 CHARS

Fisher's exact test showed no significant association between severity and gender (p = 0.6557). Limitations include low capture efficiency for certain genomic regions, inability to analyze regulatory regions far from exons, and the absence of functional studies for identified variants.

STUDY TYPE

other

SPECIALTY

ophthalmology

SUMMARISED BY

AI pipeline

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100% · A

ORIGINAL PAPER

PMC10649067

Whole-Exome Sequencing of 21 Families: Candidate Genes for Early-Onset High Myopia

International Journal of Molecular Sciences

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ABSTRACT

Abstract High myopia is the most severe and pathological form of myopia. It occurs when the spherical refractive error exceeds –6.00 spherical diopters (SDs) or the axial length (AL) of the eye is greater than 26 mm. This article focuses on early-onset high myopia, an increasingly common condition that affects children under 10 years of age and can lead to other serious ocular pathologies. Through the genetic analysis of 21 families with early-onset high myopia, this study seeks to contribute to a better understanding of the role of genetics in this disease and to propose candidate genes. Whole-exome sequencing studies with a panel of genes known to be involved in the pathology were performed in families with inconclusive results: 3% of the variants found were classified as pathogenic, 6% were likely pathogenic and the remaining 91% were variants of uncertain significance. Most of the families in this study were found to have alterations in several of the proposed genes. This suggests a polygenic inheritance of the pathology due to the cumulative effect of the alterations. Further studies are needed to validate and confirm the role of these alterations in the development of early-onset high myopia and its polygenic inheritance. Keywords: early-onset high myopia, whole-exome sequencing, ophthalmogenetics, polygenic inheritance, candidate genes

CITATION EXPORT

Eloísa Sánchez-Cazorla, Carmen González-Atienza, Ana López-Vázquez et al.. Whole-Exome Sequencing of 21 Families: Candidate Genes for Early-Onset High Myopia. International Journal of Molecular Sciences. (2023). https://doi.org/10.3390/ijms242115676

AUTHORS

25 · 6 CENTRES

Eloísa Sánchez-Cazorla, Carmen González-Atienza, Ana López-Vázquez, Natalia Arruti, María Nieves-Moreno, Susana Noval, Rocío Mena, Carmen Rodríguez-Jiménez, Patricia Rodríguez-Solana, Eva González-Iglesias, Marta Guerrero-Carretero, Oriana D’Anna Mardero, Javier Coca-Robinot, Juan Carlos Acal, Joana Blasco, Carlos Castañeda, Jesús Fraile Maya, Ángela Del Pozo, María V Gómez-Pozo, Victoria E F Montaño, Lucía De Dios-Blázquez, Carlos Rodríguez-Antolín, María de Los Ángeles Gómez-Cano, Luna Delgado-Mora, Elena Vallespín

1Molecular Ophthalmology Section, Medical and Molecular Genetics Institute (INGEMM) IdiPaz, Hospital Universitario La Paz, 28046 Madrid, Spain; [email protected] (E.S.-C.); [email protected] (C.G.-A.); [email protected] (R.M.); [email protected] (C.R.-J.); [email protected] (P.R.-S.); [email protected] (E.G.-I.); [email protected] (M.V.G.-P.); [email protected] (V.E.F.M.)
2Department of Ophthalmology, IdiPaz, Hospital Universitario La Paz, 28046 Madrid, Spain; [email protected] (A.L.-V.); [email protected] (N.A.); [email protected] (M.N.-M.); [email protected] (S.N.); [email protected] (M.G.-C.); [email protected] (O.D.M.); [email protected] (J.C.-R.); [email protected] (J.C.A.); [email protected] (J.B.); [email protected] (C.C.); [email protected] (J.F.M.)
3European Reference Network on Eye Diseases (ERN-EYE), Hospital Universitario La Paz, 28046 Madrid, Spain
4Biomedical Research Center in the Rare Diseases Network (CIBERER), Carlos II Health Institute (ISCIII), 28029 Madrid, Spain; [email protected]
5Clinical Bioinformatics Section, Medical and Molecular Genetics Institute (INGEMM) IdiPaz, CIBERER, Hospital Universitario La Paz, 28046 Madrid, Spain; [email protected] (L.D.D.-B.); [email protected] (C.R.-A.)
6Clinical Genetics Section, Medical and Molecular Genetics Institute (INGEMM) IdiPaz, CIBERER, Hospital Universitario La Paz, 28046 Madrid, Spain; [email protected] (M.d.L.Á.G.-C.); [email protected] (L.D.-M.)