GJB2‐associated hearing loss: Systematic review of worldwide prevalence, genotype, and auditory phenotype

DK Chan, KW Chang - The Laryngoscope, 2014 - Wiley Online Library
Objectives/Hypothesis To perform a systematic review of GJB2‐associated hearing loss to
describe genotype distributions and auditory phenotype. Data Sources 230 primary studies …

Genetic etiology of non-syndromic hearing loss in Latin America

K Lezirovitz, RC Mingroni-Netto - Human Genetics, 2022 - Springer
Latin America comprises all countries from South and Central America, in addition to
Mexico. It is characterized by a complex mosaic of regions with heterogeneous genetic …

Absence of GJB2 gene mutations, the GJB6 deletion (GJB6-D13S1830) and four common mitochondrial mutations in nonsyndromic genetic hearing loss in a South …

RI Kabahuma, X Ouyang, LL Du, D Yan… - International journal of …, 2011 - Elsevier
OBJECTIVE: The purpose of this study was to determine the prevalence of mutations in the
GJB2 gene, the GJB6-D13S1830 deletion and the four common mitochondrial mutations …

The genetic basis of deafness in populations of African descent

JR Rudman, RI Kabahuma, SE Bressler, Y Feng… - Journal of genetics and …, 2017 - Elsevier
Hearing loss is the most common sensorineural disorder worldwide and is associated with
more than 1000 mutations in more than 90 genes. While mutations in genes such as GJB2 …

Systematic review of pathogenic GJB2 variants in the Latino population

MH Bouzaher, CP Worden, A Jeyakumar - Otology & Neurotology, 2020 - journals.lww.com
Objectives: Define the extent to which GJB2-related hearing loss is responsible for non-
syndromic hearing loss (NSHL) in the Latino population. Methods: Preferred Reporting Items …

Newborn hearing screening and genetic testing in 8974 Brazilian neonates

K de AB Nivoloni, SM da Silva-Costa… - International journal of …, 2010 - Elsevier
OBJECTIVE: An early diagnosis has been a priority in the audiological practice. Identifying
hearing loss until 3 months old through Universal Newborn Hearing Screening and …

Prevalence of 35delG/GJB2 and del (GJB6-D13S1830) mutations in patients with non-syndromic deafness from a population of Espírito Santo-Brazil

MF Cordeiro-Silva, A Barbosa, M Santiago… - Brazilian Journal of …, 2010 - SciELO Brasil
Aim: To determine the prevalence of 35delG/GJB2 and del (GJB6-D13S1830) mutations in
patients with sensorineural hearing impairment in residents from the Espirito Santo state …

Prevalence of the GJB2 mutations and the del (GJB6-D13S1830) mutation in Brazilian patients with deafness

VB Piatto, EMG Bertollo, EL Sartorato, JV Maniglia - Hearing Research, 2004 - Elsevier
Mutations in the GJB2 gene are the most common cause of sensorineural non-syndromic
deafness in different populations. One specific mutation, 35delG, has accounted for the …

Molecular genetics study of deafness in Brazil: 8‐year experience

CA de Oliveira, F Alexandrino… - American Journal of …, 2007 - Wiley Online Library
Hereditary hearing loss is a complex disorder that involves a large number of genes. In
developed countries, 1 in 1,000 children is born with deafness severe enough to require …

Unique spectrum of GJB2 mutations in Mexico

M de la Luz Arenas-Sordo, I Menendez… - International journal of …, 2012 - Elsevier
OBJECTIVE: The aim of this study was to elucidate the involvement of mutations in three
relatively common deafness genes in Mexican individuals with non-syndromic hearing loss …