GJB2 gene mutations in newborns with non-syndromic hearing impairment in Northern China.


:Mutations in GJB2 account for the majority of recessive forms of prelingual hearing loss. However, in most previous studies it was not possible to distinguish between congenital (present at birth) and non-congenital prelingual hearing loss. In the present study, the frequency of GJB2 alleles in 20 newborns with bilateral severe-to-profound non-syndromic hearing impairment (NSHI) who were found at birth through newborn hearing screening and clinical examination is reported. PCR was used to amplify the coding region of GJB2 gene followed by sequencing analyses. Fifty volunteers with normal hearing were included as controls. Results showed that three cases were 235delC/235delC homozygotes; one was 235delC/605ins46 compound heterozygotes, 605ins46 mutation was a novel mutation reported in the Chinese population; another was 235delC/299-300delAT compound heterozygotes. 25% (5/20) of the deafness in newborns studied was caused by GJB2 gene mutations. The frequency of 235delC allele carrier in patients and in control group was 22.5% and 1%, respectively. One case was identified as being a 235delC heterozygote without other mutations detected. Besides, multiple polymorphisms such as V27I, V37I, E114G, T123N were also detected. In conclusion, GJB2 analysis is an important test that identifies a major cause of newborns with bilateral severe-to-profound NSHI screened by universal newborn hearing screening in Northern China. The most common pathologic mutation of GJB2 in studied cases was 235delC. Molecular analysis and genetic counseling will be extremely important for congenital deafness present at birth.


Hear Res


Hearing research


Shi GZ,Gong LX,Xu XH,Nie WY,Lin Q,Qi YS





Has Abstract


2004-11-01 00:00:00














  • The effect of monaural middle ear destruction on postnatal development of auditory response properties of mouse inferior collicular neurons.

    abstract::This study examined the effect of monaural middle ear destruction on postnatal development of auditory response properties of inferior collicular (IC) neurons of the laboratory mouse, Mus musculus. Monaural middle ear destruction was performed on juvenile and adult mice and the auditory response properties of neurons ...

    journal_title:Hearing research

    pub_type: 杂志文章


    authors: Xu L,Jen PH

    更新日期:2001-09-01 00:00:00

  • Summating potential (SP) tuning curves.

    abstract::Two methods were used to extract frequency specific information from the gross d.c. cochlear potential, the summating potential (SP). The first approach was to derive SP tuning curves using a two-tone simultaneous masking procedure; the second to obtain SP iso-response functions. The influence of various parameter cha...

    journal_title:Hearing research

    pub_type: 杂志文章


    authors: Cheatham MA,Dallos P

    更新日期:1984-11-01 00:00:00

  • Cisplatin ototoxicity in rat cochlear organotypic cultures.

    abstract::Ototoxicity is a dose-limiting side effect of chemotherapeutic treatment with cisplatin. In a series of experiments on neonatal rat cochlear organotypic cultures, the extent of damage induced by a broad range of cisplatin treatment concentrations was examined. Paradoxically, it was found that hair cell loss was greate...

    journal_title:Hearing research

    pub_type: 杂志文章


    authors: Ding D,He J,Allman BL,Yu D,Jiang H,Seigel GM,Salvi RJ

    更新日期:2011-12-01 00:00:00

  • Gene therapy for genetic mutations affecting non-sensory cells in the cochlea.

    abstract::Congenital hearing loss (HL) affects about 1 in every 500 infants. Among those affected more than half are caused by genetic mutations. According to the cellular sites affected by mutations in the cochlea, deafness genes could be classified into three major groups: those affecting the function of hair cells and synaps...

    journal_title:Hearing research

    pub_type: 杂志文章,评审


    authors: Zhang L,Wu X,Lin X

    更新日期:2020-09-01 00:00:00

  • An optimized, clinically relevant mouse model of cisplatin-induced ototoxicity.

    abstract::Cisplatin-induced ototoxicity results in significant, permanent hearing loss in pediatric and adult cancer survivors. Elucidating the mechanisms underlying cisplatin-induced hearing loss as well as the development of therapies to reduce and/or reverse cisplatin ototoxicity have been impeded by suboptimal animal models...

    journal_title:Hearing research

    pub_type: 杂志文章


    authors: Fernandez K,Wafa T,Fitzgerald TS,Cunningham LL

    更新日期:2019-04-01 00:00:00

  • Changes in spontaneous firing rate and neural synchrony in cat primary auditory cortex after localized tone-induced hearing loss.

    abstract::Increase in spontaneous neural activity after noise-induced hearing loss has frequently been associated with the phenomenon of tinnitus. Eighteen juvenile and adult cats were exposed for 2 h to a 6 kHz tone with an intensity of 115 dB SPL at the cat's head. Seven non-exposed littermates and seven other normal hearing ...

    journal_title:Hearing research

    pub_type: 杂志文章


    authors: Seki S,Eggermont JJ

    更新日期:2003-06-01 00:00:00

  • Differential protective effects of neurotrophins in the attenuation of noise-induced hair cell loss.

    abstract::The protective efficacy of neurotrophin-3 (NT-3) and brain-derived neurotrophic factor (BDNF) at 1 or 10 microg/ml was assessed in guinea pigs exposed to 4 kHz octave band noise at 115 dB SPL for 5 h. BDNF, NT-3 or artificial perilymph was delivered to the scala tympani via a mini-osmotic pump, beginning 4 days prior ...

    journal_title:Hearing research

    pub_type: 杂志文章


    authors: Shoji F,Miller AL,Mitchell A,Yamasoba T,Altschuler RA,Miller JM

    更新日期:2000-08-01 00:00:00

  • Cochlear microphonics and otoacoustic emissions in chronically de-efferented chinchilla.

    abstract::The effects of eliminating the olivocochlear bundle (OCB) on cochlear electromechanical properties were examined by measuring cochlear microphonics (CM) and distortion product otoacoustic emissions (DPOAEs) in chronically de-efferented chinchillas. The OCB fibers to the right ears were successfully sectioned in six ou...

    journal_title:Hearing research

    pub_type: 杂志文章


    authors: Zheng XY,McFadden SL,Henderson D,Ding DL,Burkard R

    更新日期:2000-05-01 00:00:00

  • Effects of organic acids on the edema of the stria vascularis induced by furosemide.

    abstract::Furosemide is a loop diuretic which is ototoxic. Investigations have shown the stria vascularis to be the target tissue of this ototoxic drug. The purpose of the present study was to investigate the effects of furosemide on the stria vascularis in chinchillas, in controls and in animals pretreated with the above organ...

    journal_title:Hearing research

    pub_type: 杂志文章


    authors: Rybak LP,Whitworth C,Weberg A,Scott V

    更新日期:1992-04-01 00:00:00

  • Genetic background effects on age-related hearing loss associated with Cdh23 variants in mice.

    abstract::Inbred strain variants of the Cdh23 gene have been shown to influence the onset and progression of age-related hearing loss (AHL) in mice. In linkage backcrosses, the recessive Cdh23 allele (ahl) of the C57BL/6J strain, when homozygous, confers increased susceptibility to AHL, while the dominant allele (Ahl+) of the C...

    journal_title:Hearing research

    pub_type: 杂志文章


    authors: Kane KL,Longo-Guess CM,Gagnon LH,Ding D,Salvi RJ,Johnson KR

    更新日期:2012-01-01 00:00:00

  • Immunohistochemical localization of S-100 protein in auditory and vestibular end organs of the mouse and hamster.

    abstract::The distribution of S-100-like immunoreactivity in mouse and hamster auditory and vestibular end organs was determined by the use of immunohistochemistry. Within the organ of Corti, the cytoplasm of cells of Deiter and Hensen were strongly immunoreactive. Inner hair cells and the peripheral processes and cell bodies o...

    journal_title:Hearing research

    pub_type: 杂志文章


    authors: Foster JD,Drescher MJ,Hatfield JS,Drescher DG

    更新日期:1994-04-01 00:00:00

  • A method for calibration of bone driver transducers to measure the mastoid impedance.

    abstract::When using bone vibrator transducers for clinical measurements, the transfer of energy from the bone driver depends on the impedance match between the driver and the load (human mastoid or otherwise) to which the driver will be applied. Current clinical calibration methods are incapable of quantifying this impedance m...

    journal_title:Hearing research

    pub_type: 杂志文章


    authors: Weece R,Allen J

    更新日期:2010-05-01 00:00:00

  • In vivo binding and hearing loss after intracochlear infusion of KHRI-3 antibody.

    abstract::The IgG1 mouse monoclonal antibody (MAb) KHRI-3, binds to an antigen of 65-68 kDa expressed on inner ear supporting cells in guinea pigs. We previously showed [Nair et al. (1995) Monoclonal antibody induced hearing loss. Hear. Res. 83, 101-113] that mice carrying the KHRI-3 hybridoma develop high frequency hearing los...

    journal_title:Hearing research

    pub_type: 杂志文章


    authors: Nair TS,Prieskorn DM,Miller JM,Mori A,Gray J,Carey TE

    更新日期:1997-05-01 00:00:00

  • Frequency selectivity in macaque monkeys measured using a notched-noise method.

    abstract::The auditory system is thought to process complex sounds through overlapping bandpass filters. Frequency selectivity as estimated by auditory filters has been well quantified in humans and other mammalian species using behavioral and physiological methodologies, but little work has been done to examine frequency selec...

    journal_title:Hearing research

    pub_type: 杂志文章


    authors: Burton JA,Dylla ME,Ramachandran R

    更新日期:2018-01-01 00:00:00

  • Sodium pentobarbital abolishes bursting spontaneous activity of dorsal cochlear nucleus in rat brain slices.

    abstract::There is evidence that pentobarbital, a commonly used anesthetic, can affect neuronal activity, but its effects on particular neurons of the dorsal cochlear nucleus (DCN) are not well known. Bursting (complex spiking) spontaneous activity has been observed in the DCN in brain slice preparations and in recordings from ...

    journal_title:Hearing research

    pub_type: 杂志文章


    authors: Chen K,Godfrey DA

    更新日期:2000-11-01 00:00:00

  • Homodyne interferometer for basilar membrane vibration measurements. II. Hardware and techniques.

    abstract::Selected mechanical features of the design of the homodyne interferometer are described. This interferometer was utilized for basilar membrane vibration measurements. The massive construction necessary to minimize mechanical vibration and noise is described. In order to measure basilar membrane vibrations, it was nece...

    journal_title:Hearing research

    pub_type: 杂志文章


    authors: Khanna SM,Johnson GW,Jacobs J

    更新日期:1986-01-01 00:00:00

  • The columnar and layer-specific response properties of neurons in the primary auditory cortex of Mongolian gerbils.

    abstract::The columnar and layer-specific response properties of neurons in the primary auditory cortex (AI) of Mongolian gerbils were studied using single-unit recordings of responses to tone-burst stimuli presented to the ear contralateral to the recording side. During near-radial microelectrode penetrations of the AI in 100-...

    journal_title:Hearing research

    pub_type: 杂志文章


    authors: Sugimoto S,Sakurada M,Horikawa J,Taniguchi I

    更新日期:1997-10-01 00:00:00

  • Evaluating cochlear function and the effects of noise exposure in the B6.CAST+Ahl mouse with distortion product otoacoustic emissions.

    abstract::Cochlear function and susceptibility to noise over-exposure were examined in the congenic mouse strain B6.CAST+Ahl (B6.CAST) and compared to these same features in the CAST/Ei (CAST) and C57BL/6J (C57) parental strains. For both types of comparisons, the primary measure was the distortion-product otoacoustic emissions...

    journal_title:Hearing research

    pub_type: 杂志文章


    authors: Vázquez AE,Jimenez AM,Martin GK,Luebke AE,Lonsbury-Martin BL

    更新日期:2004-08-01 00:00:00

  • Standardised profiling for tinnitus research: The European School for Interdisciplinary Tinnitus Research Screening Questionnaire (ESIT-SQ).

    abstract:BACKGROUND:The heterogeneity of tinnitus is substantial. Its numerous pathophysiological mechanisms and clinical manifestations have hampered fundamental and treatment research significantly. A decade ago, the Tinnitus Research Initiative introduced the Tinnitus Sample Case History Questionnaire, a case history instrum...

    journal_title:Hearing research

    pub_type: 杂志文章,多中心研究


    authors: Genitsaridi E,Partyka M,Gallus S,Lopez-Escamez JA,Schecklmann M,Mielczarek M,Trpchevska N,Santacruz JL,Schoisswohl S,Riha C,Lourenco M,Biswas R,Liyanage N,Cederroth CR,Perez-Carpena P,Devos J,Fuller T,Edvall NK,Hellbe

    更新日期:2019-06-01 00:00:00

  • CD1 hearing-impaired mice. II. Group latencies and optimal f2/f1 ratios of distortion product otoacoustic emissions, and scanning electron microscopy.

    abstract::In our companion paper (Le Calvez et al., 1998), the levels of distortion product otoacoustic emissions (DPOAE) were collected in the ears of CD1 mice with progressive degeneration of cochlear outer hair cells (OHC). Their comparison to standard functional measurements such as auditory-evoked brainstem responses (ABR)...

    journal_title:Hearing research

    pub_type: 杂志文章


    authors: Le Calvez S,Guilhaume A,Romand R,Aran JM,Avan P

    更新日期:1998-06-01 00:00:00

  • A nicotinic acetylcholine receptor-like alpha-bungarotoxin-binding site on outer hair cells.

    abstract::Acetylcholine (ACh) appears to be the major neurotransmitter liberated from olivocochlear efferents terminating on outer hair cells (OHC). Recently, cholinergic receptor epitopes were visualized at the basal pole of the OHCs. To evaluate the ACh receptor type at OHC we performed binding studies with [125I]-labelled al...

    journal_title:Hearing research

    pub_type: 杂志文章


    authors: Plinkert PK,Zenner HP,Heilbronn E

    更新日期:1991-05-01 00:00:00

  • Effects of adenosine 5'-triphosphate and related agonists on cochlear function.

    abstract::Several lines of evidence implicate a neurotransmitter/modulator role for ATP in the cochlea. Most of the work supporting such a notion has been accomplished using in vitro preparations of sensory hair cells or other cochlear tissues. Little is known regarding the functional consequences of ATP receptor activation in ...

    journal_title:Hearing research

    pub_type: 杂志文章


    authors: Kujawa SG,Erostegui C,Fallon M,Crist J,Bobbin RP

    更新日期:1994-06-01 00:00:00

  • Endothelin-1 mediated induction of extracellular matrix genes in strial marginal cells underlies strial pathology in Alport mice.

    abstract::Alport syndrome, a type IV collagen disorder, manifests as glomerular disease associated with hearing loss with thickening of the glomerular and strial capillary basement membranes (SCBMs). We have identified a role for endothelin-1 (ET-1) activation of endothelin A receptors (ETARs) in glomerular pathogenesis. Here w...

    journal_title:Hearing research

    pub_type: 杂志文章


    authors: Meehan DT,Delimont D,Dufek B,Zallocchi M,Phillips G,Gratton MA,Cosgrove D

    更新日期:2016-11-01 00:00:00

  • Mechanical properties of human tympanic membrane in the quasi-static regime from in situ point indentation measurements.

    abstract::The tympanic membrane is a key component of the human auditory apparatus. Good estimates of tympanic membrane mechanical properties are important to obtain realistic models of middle ear mechanics. Current literature values are almost all derived from direct mechanical tests on cut-out strips. For a biomedical specime...

    journal_title:Hearing research

    pub_type: 杂志文章


    authors: Aernouts J,Aerts JR,Dirckx JJ

    更新日期:2012-08-01 00:00:00

  • Effects of chronic cochlear de-efferentation on auditory-nerve response.

    abstract::The olivocochlear bundle was sectioned at the floor of the fourth ventricle in a series of cats. From three to thirty weeks post-operatively, recordings were made from single auditory-nerve fibers. Tuning curves, spontaneous discharge rates, and rate-level functions for tones at the characteristic frequency were measu...

    journal_title:Hearing research

    pub_type: 杂志文章


    authors: Liberman MC

    更新日期:1990-11-01 00:00:00

  • Current distributions in the cat cochlea: a modelling and electrophysiological study.

    abstract::The current distribution of bipolar electrodes implanted into the scala tympani of the cat cochlea was investigated using a two-electrode masking technique. Two electrode masking is a non-invasive technique which requires two electrically independent electrodes and relies upon the forward masking of the electrically e...

    journal_title:Hearing research

    pub_type: 杂志文章


    authors: O'Leary SJ,Black RC,Clark GM

    更新日期:1985-06-01 00:00:00

  • Response of the flat cochlear epithelium to forced expression of Atoh1.

    abstract::Following hair cell elimination in severely traumatized cochleae, differentiated supporting cells are often replaced by a simple epithelium with cuboidal or flat appearance. Atoh1 (previously Math1) is a basic helix-loop-helix transcription factor critical to hair cell differentiation during mammalian embryogenesis. F...

    journal_title:Hearing research

    pub_type: 杂志文章


    authors: Izumikawa M,Batts SA,Miyazawa T,Swiderski DL,Raphael Y

    更新日期:2008-06-01 00:00:00

  • Effects of salicylate application on the spontaneous activity in brain slices of the mouse cochlear nucleus, medial geniculate body and primary auditory cortex.

    abstract::Salicylate is a well-known substance to produce reversible tinnitus in animals and humans as well. It has been shown that systemic application of salicylate changes the neuronal spontaneous activity in several parts of the auditory pathway. The effects observed in central auditory structures in vivo could be based upo...

    journal_title:Hearing research

    pub_type: 杂志文章


    authors: Basta D,Goetze R,Ernst A

    更新日期:2008-06-01 00:00:00

  • Residual effects in monaural temporary threshold shifts to pure tones.

    abstract::Temporary threshold shifts (TTS), of the cochlear action potential in the guinea pig, caused by a high frequency exposure tone could be reduced by a prior exposure at the same frequency but lower intensity. The TTS caused by the initial, low intensity exposure tone was allowed to recover to levels where the thresholds...

    journal_title:Hearing research

    pub_type: 杂志文章


    authors: Rajan R,Johnstone BM

    更新日期:1983-11-01 00:00:00

  • Variation of distortion product otoacoustic emissions with furosemide injection.

    abstract::Cochlear function was monitored in adult gerbils using distortion product otoacoustic emissions (DPOAE) during intraperitoneal injection of furosemide. All stimulus parameters were varied independently over a wide range, the stimulus frequencies f1 and f2 from 1 to 16 kHz, and the stimulus levels L1 and L2 from 20 to ...

    journal_title:Hearing research

    pub_type: 杂志文章


    authors: Mills DM,Rubel EW

    更新日期:1994-06-15 00:00:00