Using the Hereditary Hearing Loss arrayed primer extension (APEX) array, which contains 198 mutations across 8 hearing loss-associated genes (GJB2, GJB6, GJB3, GJA1, SLC26A4, SLC26A5, 12S-rRNA, and tRNA Ser), we compared the frequency of sequence variants in 94 individuals with early presbycusis to 50 unaffected controls and aimed to identify possible genetic contributors. This cross-sectional ...

Non-syndromic hearing loss (NSHL) is a major public health issue and affects a substantial proportion of newborns worldwide. Currently little information is available about the molecular etiology of hearing impairment in the Chinese population. Therefore, this study aimed to perform a comprehensive investigation on the genetic mutation patterns of non-syndromic deafness in Zhongshan City, a cit...

OBJECTIVES Infants with slight/mild or late-onset hearing impairment might be missed in universal newborn hearing screening (UNHS). We identified the mutation hot spot of common deaf gene in the newborns in Jinan area population by screening the mutation spot with neonate cord blood, in order to make clear whether the neonate cord blood for screening is feasible. METHODS Six hundred and forty...

OBJECTIVES To investigate speech and language outcomes in children with cochlear implants (CIs) who had mutations in common deafness genes and to compare their performances with those without mutations. STUDY DESIGN Prospective study. METHODS Patients who received CIs before 18 years of age and had used CIs for more than 3 years were enrolled in this study. All patients underwent mutation s...

Introduction: Hearing impairment is a complex medical disorder whichhas genetic and non-genetic causes. Gap Junction Protein Beta 2 (GJB2) gene variant is a well-known disease-causing gene among patients with hearing impairment. The frequencies of genetic variants in the GJB2 gene are different in each population. This study aimed to discuss the GJB2 gene status in an Iranian population with he...

Introduction: Non-syndromic hearing loss (NSHL) in children, which has numerous causes, can impede or even postpone the acquisition of spoken language. In Viet Nam, screening programs and genetic testing for NSHL are rarely applied. this study, 31 pediatric patients had their medical histories collected alongside sequencing results GJB2 TECTA genes to determine prevalence these mutations commun...

OBJECTIVES To determine the prevalence of refractive and nonrefractive ophthalmologic abnormalities in children with sensorineural hearing loss (SNHL) and to evaluate the overall utility of routine ophthalmological examination in children with SNHL. DESIGN An institutional review board-approved retrospective analysis of ophthalmologic findings in children (18 years and younger) with SNHL seen...