Mutation analysis of GJB2 and GJB6 genes and the genetic linkage analysis of five common DFNB loci in the Iranian families with autosomal recessive non-syndrom [PDF]
, 2010 The incidence of pre-lingual hearing loss (HL) is about 1 in 1000 neonates. More than 60% of cases are inherited. Non-syndromic HL (NSHL) is extremely heterogeneous: more than 130 loci have been identified so far.
Farokhi, Effat. +8 more
core +1 more source
Neural Plasticity, 2017 Hereditary hearing loss is characterized by a high degree of genetic heterogeneity. Mutations in the TMPRSS3 (transmembrane protease, serine 3) gene cause prelingual (DFNB10) or postlingual (DFNB8) deafness.
Xue Gao +11 more
doaj +1 more source
Screening of DFNB3 in Iranian families with autosomal recessive non-syndromic hearing loss reveals a novel pathogenic mutation in the MyTh4 domain of the MYO15A gene in a linked family [PDF]
Iranian Journal of Basic Medical Sciences, 2016 Objective(s): Non-syndromic sensorineural hearing loss (NSHL) is a common disorder affecting approximately 1 in 500 newborns. This type of hearing loss is extremely heterogeneous and includes over 100 loci. Mutations in the GJB2 gene have been implicated
Somayeh Reiisi +3 more
doaj
Genetic Linkage Analysis of DFNB2 Locus with Autosomal Recessive Hearing Loss in Families Negative for GJB2 Mutations in Khuzestan Province [PDF]
Majallah-i dānishgāh-i ̒ulūm-i pizishkī-i Arāk, 2016 Background: Hearing loss is a common sensory impairment in humans which half of its causes are genetic reasons. Genetic hearing loss can be divided into the two types of syndromic and non-syndromic, which 80% of non-syndromic cases is Autosomal Recessive
Parisa Tahmasebi +4 more
doaj
Decreased disulphide/thiol ratio in patients with autosomal recessive non-syndromic hearing loss
, 2018 Introduction: Oxidative stress plays a key role in the formation of age-related, noise-induced and drug-induced hearing loss. Thiols are organic compounds which can react with free radicals to protect against tissue and cell damage caused by reactive ...
Alisik, Murat +6 more
core +1 more source
, 2015 Hearing loss is the most common communication disorder affecting about 1-7/1000 births worldwide. The most affected areas are developing countries due toextensively poor health care systems.
Kamogelo Lebeko +5 more
core
Summary of the genetic diagnostic results obtained in the present study.
, 2013 Twelve multiplex families with idiopathic SNHI, including 10 ADNSHL and 2 ARNSHL families, were subjected to MPS for 80 known human deafness genes. Four out of 10 ADNSHL families were diagnosed to segregate causative variants, including GJB2 p.R75Q ...
Ying-Chang Lu (212808) +6 more
core +1 more source
Genetic linkage analysis of the DFNB48 and DFNB98 loci in families with Autosomal Recessive Non-Syndromic Hearing Loss (ARNSHL) from Khouzestan province [PDF]
, 2016 Background and aims: Hearing loss, a sensorineural disorder, is one of the most common congenital impairments, occurring in approximately 1 in 500 newborns.
Taghipour-Sheshdeh, Afsaneh. +5 more
core
Exome sequencing identifies novel variants associated with non-syndromic hearing loss in the Iranian population. [PDF]
PLoS One, 2023 Vallian Broojeni J +3 more
europepmc +1 more source
Iranian Rehabilitation Journal, 2015 Objectives: Hearing loss (HL) is the most common sensory disorder, and affects 1 in 1000 newborns. About 50% of HL is due to genetics and 70% of them are non-syndromic with a recessive pattern of inheritance.
Reihaneh Alikhani +5 more
doaj