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Predicting Pathogenicity for Novel Hearing Loss Mutations Based on Genetic and Protein Structure Approaches by Buonfiglio, Paula I. (author);Bruque, Carlos D. (author);Lotersztein, Vanesa (author);Luce, Leonela (author);Giliberto, Florencia (author);Menazzi, Sebastián (author);Francipane, Liliana (author);Paoli, Bibiana (author);Goldschmidt, Ernesto (author);Elgoyhen, Ana Belén (author);Dalamón, Viviana (author) is a Biochemistry, Genetics and Molecular Biology article available to read on EtoBox.

What is Predicting Pathogenicity for Novel Hearing Loss Mutations Based on Genetic and Protein Structure Approaches about?

## Abstract Hearing loss is a heterogeneous disorder. Identification of causative mutations is demanding due to genetic heterogeneity. In this study, we investigated the genetic cause of sensorineural hearing loss in patients with severe/profound deafness. After the exclusion of GJB2-GJB6 mutations, we performed whole exome sequencing in 32 unrelated Argentinean families. Mutations were detected in 16 known deafness genes in 20 patients: ACTG1, ADGRV1 (GPR98), CDH23, COL4A3, COL4A5, DFNA5 (GSDDE), EYA4, LARS2, LOXHD1, MITF, MYO6, MYO7A, TECTA, TMPRSS3, USH2A and WSF1. Notably, 11 variants affecting 9 different non-GJB2 genes resulted novel: c.12829C > T, p.(Arg4277\*) in ADGRV1; c.337del, p.(Asp109\*) and c.3352del, p.(Gly1118Alafs\*7) in CDH23; c.3500G > A, p.(Gly1167Glu) in COL4A3; c.1183C > T, p.(Pro395Ser) and c.1759C > T, p.(Pro587Ser) in COL4A5; c.580 + 2 T > C in EYA4; c.1481dup, p.(Leu495Profs\*31) in LARS2; c.1939 T > C, p.(Phe647Leu), in MYO6; c.733C > T, p.(Gln245\*) in MYO7A and c.242C > G, p.(Ser81\*) in TMPRSS3 genes. To predict the effect of these variants, novel protein modeling and protein stability analysis were employed. These results highlight the value of whole

Who reads Predicting Pathogenicity for Novel Hearing Loss Mutations Based on Genetic and Protein Structure Approaches?

Author

Buonfiglio, Paula I. (author);Bruque, Carlos D. (author);Lotersztein, Vanesa (author);Luce, Leonela (author);Giliberto, Florencia (author);Menazzi, Sebastián (author);Francipane, Liliana (author);Paoli, Bibiana (author);Goldschmidt, Ernesto (author);Elgoyhen, Ana Belén (author);Dalamón, Viviana (author)

Publisher

Springer Science and Business Media LLC

Published

2022

Language

EN

Field

Biochemistry, Genetics and Molecular Biology (Life Sciences)