Objectives To review the identified deafness genes related to nonsyndromic hearing loss (NSHL) and summarize their expressions and functions in the cochlea and to introduce the current studies of molecular genetics o...Objectives To review the identified deafness genes related to nonsyndromic hearing loss (NSHL) and summarize their expressions and functions in the cochlea and to introduce the current studies of molecular genetics on NSHL in China Methods The presented data are based on a review of the literature as well as the author's experience with NSHL and communications with other researchers in China over the past 3 years Results Currently, 23 deafness genes related to NSHL have been cloned and identified Some genes are associated with both NSHL and syndromic hearing loss (SHL), in both dominant and recessive deafness Deafness genes have a highly specific expression pattern in the inner ear Some functional categories are starting to emerge from a characterization of deafness genes There are interacting genes in the genetic background that influence the extent of hearing impairment The GJB3 gene, which is associated with high frequency hearing impairment, was cloned in a Chinese laboratory Mutations in some genes, such as GJB2 and mitochondrial 12S rRNA, have been screened in Chinese patients with NSHL Mapping new deafness gene loci as well as identifying new genes and their functions is an active area of study in China Conclusions It is challenging for us to continue identifying new deafness genes and analyze gene functions By identifying genes responsible for monogenic hearing impairment, more insight may be gained into the molecular process of hearing and the pathology of hearing loss展开更多
Non-syndromic hearing loss(NSHL)is a common defect in humans.Variants of MARVELD2 at the DFNB49 locus have been shown to cause bilateral,moderate to profound NSHL.However,the role of MARVELD2 in NSHL susceptibility in...Non-syndromic hearing loss(NSHL)is a common defect in humans.Variants of MARVELD2 at the DFNB49 locus have been shown to cause bilateral,moderate to profound NSHL.However,the role of MARVELD2 in NSHL susceptibility in the Chinese population has not been studied.Here we conducted a case-control study in an eastern Chinese population to profile the spectrum and frequency of MARVELD2 variants,as well as the association of MARVELD2 gene variants with NSHL.Our results showed that variants identified in the Chinese population are significantly different from those reported in Slovak,Hungarian,and Czech Roma,as well as Pakistani families.We identified 11 variants in a cohort of 283 NSHL cases.展开更多
文摘Objectives To review the identified deafness genes related to nonsyndromic hearing loss (NSHL) and summarize their expressions and functions in the cochlea and to introduce the current studies of molecular genetics on NSHL in China Methods The presented data are based on a review of the literature as well as the author's experience with NSHL and communications with other researchers in China over the past 3 years Results Currently, 23 deafness genes related to NSHL have been cloned and identified Some genes are associated with both NSHL and syndromic hearing loss (SHL), in both dominant and recessive deafness Deafness genes have a highly specific expression pattern in the inner ear Some functional categories are starting to emerge from a characterization of deafness genes There are interacting genes in the genetic background that influence the extent of hearing impairment The GJB3 gene, which is associated with high frequency hearing impairment, was cloned in a Chinese laboratory Mutations in some genes, such as GJB2 and mitochondrial 12S rRNA, have been screened in Chinese patients with NSHL Mapping new deafness gene loci as well as identifying new genes and their functions is an active area of study in China Conclusions It is challenging for us to continue identifying new deafness genes and analyze gene functions By identifying genes responsible for monogenic hearing impairment, more insight may be gained into the molecular process of hearing and the pathology of hearing loss
基金Project supported by the National Basic Research Priorities Program of China(Nos.2014CB541702 and 2014CB541704)the National Natural Science Foundation of China(Nos.8147068 5?yand 81600817)the Zhejiang Provincial Public Welfare Technology Applied Research Project(No.2016C33148),China
文摘Non-syndromic hearing loss(NSHL)is a common defect in humans.Variants of MARVELD2 at the DFNB49 locus have been shown to cause bilateral,moderate to profound NSHL.However,the role of MARVELD2 in NSHL susceptibility in the Chinese population has not been studied.Here we conducted a case-control study in an eastern Chinese population to profile the spectrum and frequency of MARVELD2 variants,as well as the association of MARVELD2 gene variants with NSHL.Our results showed that variants identified in the Chinese population are significantly different from those reported in Slovak,Hungarian,and Czech Roma,as well as Pakistani families.We identified 11 variants in a cohort of 283 NSHL cases.
