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Updated: Jan 13, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

エクアドルコホートにおける難聴の根底にあるDNA変異スペクトル

Anghela Reinoso-Castillo¹, Memoona Ramzan², Andrea Carrera-Gonzalez³

¹Universidad Regional Amazónica Ikiam, Parroquia Muyuna km 7 vía Alto Tena, Tena, Napo, Ecuador.

Biochemical genetics

|January 9, 2026

Abstract:

The genetic etiology of hearing loss (HL) in Ecuador remains largely unexplored. This study investigates the spectrum of genetic variants associated with HL in a cohort of 66 Ecuadorian families using Exome or Genome sequencing (ES/GS). We identified pathogenic and likely pathogenic variants underlying HL in 27 families (41%). While variants were detected in 15 different genes, only GJB2 (in 12 families) and TMC1 (in 3 families) variants were identified in more than one family. The NM_004004.6 (GJB2):c.19 C > T (p.Gln7*) and NM_004004.6 (GJB2):c.35delG (p.Gly12Valfs*2) variants were more common than other alleles in GJB2. In some families, we detected variants of uncertain significance (VUS) in well-established HL genes and classified them as "possibly solved" due to their rarity and equivocal functional predictions. This study provides valuable insights into the genetic basis of HL in Ecuador and lays the groundwork for improved regional genetic diagnostics and management.

キーワード:

難聴遺伝子エクアドルゲノムエクサーム

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Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

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