Publications by authors named "Gabrielle N Manzoli"
Article Synopsis
- Hearing loss (HL) is a common condition linked to over 200 different genes, prompting researchers to use exome and genome sequencing to find genetic causes in 322 families from Asia and Latin America.
- The study found that variants in the GJB2 gene were present in 58 participants, but these were excluded from further analysis, as were 38 families with syndromic findings, leading to a focus on 212 families for further genetic testing.
- Exome sequencing revealed 78 variants related to HL in 71 families, with a combined detection rate of 40% using both exome and genome sequencing, the latter proving effective in identifying difficult-to-detect variants in specific genetic regions.
Identifying the genetic etiology in a person with hearing loss (HL) is challenging due to the extreme genetic heterogeneity in HL and the population-specific variability. In this study, after excluding GJB2 variants, targeted resequencing of 180 deafness-related genes revealed the causative variants in 11 of 19 (58%) Brazilian probands with autosomal recessive HL. Identified pathogenic variants were in MYO15A (10 families) and CLDN14 (one family).
View Article and Find Full Text PDFNon-syndromic hearing impairment in a multi-ethnic population of Northeastern Brazil.
Int J Pediatr Otorhinolaryngol
July 2013
Objective: There are many hearing impaired individuals in Monte Santo, a rural municipality in the state of Bahia, Brazil, including multiple familial cases strongly suggestive of a genetic aetiology.
Methods: The present study investigated 81 subjects with hearing impairment (HI) recruited from 36 families. Mutations often associated with HI, i.