Non-syndromic hereditary sensorineural hearing loss: review of the genes involved (Q38178411)

30 August 2017

title

Non-syndromic hereditary sensorineural hearing loss: review of the genes involved (English)

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sensorineural hearing loss

30 August 2017

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F Stelma

1

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30 August 2017

M F Bhutta

series ordinal

2

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30 August 2017

publication date

14 January 2014

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Journal of Laryngology and Otology

30 August 2017

published in

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30 August 2017

volume

128

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30 August 2017

issue

1

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30 August 2017

page(s)

13-21

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Human nonsyndromic hereditary deafness DFNA17 is due to a mutation in nonmuscle myosin MYH9

30 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1017%2FS0022215113003265

The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0022215113003265

Autosomal dominant non-syndromic deafness caused by a mutation in the myosin VIIA gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0022215113003265

Mutations of MYO6 are associated with recessive deafness, DFNB37

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0022215113003265

MYO6, the human homologue of the gene responsible for deafness in Snell's waltzer mice, is mutated in autosomal dominant nonsyndromic hearing loss

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0022215113003265

From flies' eyes to our ears: mutations in a human class III myosin cause progressive nonsyndromic hearing loss DFNB30

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0022215113003265

Multiple mutations of MYO1A, a cochlear-expressed gene, in sensorineural hearing loss

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0022215113003265

Mouse models to study inner ear development and hereditary hearing loss

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0022215113003265

Stereocilin connects outer hair cell stereocilia to one another and to the tectorial membrane

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0022215113003265

Nonmuscle myosin heavy-chain gene MYH14 is expressed in cochlea and mutated in patients affected by autosomal dominant hearing impairment (DFNA4)

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0022215113003265

TMHS is an integral component of the mechanotransduction machinery of cochlear hair cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0022215113003265

Cadherin 23 and protocadherin 15 interact to form tip-link filaments in sensory hair cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0022215113003265

Cadherin 23 is a component of the transient lateral links in the developing hair bundles of cochlear sensory cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0022215113003265

Have we found the tip link, transduction channel, and gating spring of the hair cell?

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0022215113003265

Molecular characterization of the ankle-link complex in cochlear hair cells and its role in the hair bundle functioning

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0022215113003265

Harmonin-b, an actin-binding scaffold protein, is involved in the adaptation of mechanoelectrical transduction by sensory hair cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0022215113003265

Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0022215113003265

Otoancorin, an inner ear protein restricted to the interface between the apical surface of sensory epithelia and their overlying acellular gels, is defective in autosomal recessive deafness DFNB22.

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0022215113003265

Carcinoembryonic antigen-related cell adhesion molecule 16 interacts with alpha-tectorin and is mutated in autosomal dominant hearing loss (DFNA4).

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0022215113003265

Mutations in a new gene encoding a protein of the hair bundle cause non-syndromic deafness at the DFNB16 locus

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0022215113003265

Mutations in PTPRQ are a cause of autosomal-recessive nonsyndromic hearing impairment DFNB84 and associated with vestibular dysfunction

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0022215113003265

Mutations of human TMHS cause recessively inherited non-syndromic hearing loss

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0022215113003265

Nonsyndromic recessive deafness DFNB18 and Usher syndrome type IC are allelic mutations of USHIC.

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0022215113003265

Mutations in the alternatively spliced exons of USH1C cause non-syndromic recessive deafness

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0022215113003265

Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0022215113003265

Development and properties of stereociliary link types in hair cells of the mouse cochlea

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0022215113003265

Mutations of the RDX gene cause nonsyndromic hearing loss at the DFNB24 locus

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0022215113003265

Radixin is a constituent of stereocilia in hair cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0022215113003265

Mutations of ESPN cause autosomal recessive deafness and vestibular dysfunction

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0022215113003265

A novel mutation in the Espin gene causes autosomal recessive nonsyndromic hearing loss but no apparent vestibular dysfunction in a Moroccan family.

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0022215113003265

The deaf jerker mouse has a mutation in the gene encoding the espin actin-bundling proteins of hair cell stereocilia and lacks espins.

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0022215113003265

Next-generation sequencing identifies mutations of SMPX, which encodes the small muscle protein, X-linked, as a cause of progressive hearing impairment

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0022215113003265

Nonsense mutations in SMPX, encoding a protein responsive to physical force, result in X-chromosomal hearing loss

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0022215113003265

Targeted capture and next-generation sequencing identifies C9orf75, encoding taperin, as the mutated gene in nonsyndromic deafness DFNB79

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0022215113003265

A hearing and vestibular phenotyping pipeline to identify mouse mutants with hearing impairment

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0022215113003265

Mutations in a novel isoform of TRIOBP that encodes a filamentous-actin binding protein are responsible for DFNB28 recessive nonsyndromic hearing loss

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0022215113003265

Quiet as a mouse: dissecting the molecular and genetic basis of hearing

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0022215113003265

Mutations in TRIOBP, which encodes a putative cytoskeletal-organizing protein, are associated with nonsyndromic recessive deafness

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0022215113003265

Prestin, a cochlear motor protein, is defective in non-syndromic hearing loss

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0022215113003265

Actin-bundling protein TRIOBP forms resilient rootlets of hair cell stereocilia essential for hearing

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0022215113003265

Prestin is required for electromotility of the outer hair cell and for the cochlear amplifier

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0022215113003265

Prestin is the motor protein of cochlear outer hair cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0022215113003265

Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS)

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0022215113003265

A mutation in PDS causes non-syndromic recessive deafness

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0022215113003265

Molecular basis of DFNB73: mutations of BSND can cause nonsyndromic deafness or Bartter syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0022215113003265

Nonsyndromic deafness DFNA1 associated with mutation of a human homolog of the Drosophila gene diaphanous

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0022215113003265

Mutations in the gamma-actin gene (ACTG1) are associated with dominant progressive deafness (DFNA20/26).

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0022215113003265

A mutation in the gamma actin 1 (ACTG1) gene causes autosomal dominant hearing loss (DFNA20/26)

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0022215113003265

An actin molecular treadmill and myosins maintain stereocilia functional architecture and self-renewal

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0022215113003265

Evoked mechanical responses of isolated cochlear outer hair cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0022215113003265

The novel PMCA2 pump mutation Tommy impairs cytosolic calcium clearance in hair cells and links to deafness in mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0022215113003265

A deafness mutation isolates a second role for the tectorial membrane in hearing

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0022215113003265

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0022215113003265

KCNQ4 K(+) channels tune mechanoreceptors for normal touch sensation in mouse and man.

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0022215113003265

Hearing loss: mechanisms revealed by genetics and cell biology

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0022215113003265

KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafness

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0022215113003265

A deletion involving the connexin 30 gene in nonsyndromic hearing impairment

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0022215113003265

Restoration of hearing in the VGLUT3 knockout mouse using virally mediated gene therapy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0022215113003265

Mutations in connexin31 underlie recessive as well as dominant non-syndromic hearing loss

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0022215113003265

Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0022215113003265

Connexin 26 mutations in hereditary non-syndromic sensorineural deafness

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0022215113003265

Diverse deafness mechanisms of connexin mutations revealed by studies using in vitro approaches and mouse models

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0022215113003265

Hereditary hearing loss: from human mutation to mechanism

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0022215113003265

Modification of human hearing loss by plasma-membrane calcium pump PMCA2

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0022215113003265

Genomic duplication and overexpression of TJP2/ZO-2 leads to altered expression of apoptosis genes in progressive nonsyndromic hearing loss DFNA51.

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0022215113003265

Tricellulin is a tight-junction protein necessary for hearing

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0022215113003265

Mutations in the gene encoding tight junction claudin-14 cause autosomal recessive deafness DFNB29.

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0022215113003265

Claudin 14 knockout mice, a model for autosomal recessive deafness DFNB29, are deaf due to cochlear hair cell degeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0022215113003265

Sensorineural deafness and seizures in mice lacking vesicular glutamate transporter 3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0022215113003265

Impairment of SLC17A8 encoding vesicular glutamate transporter-3, VGLUT3, underlies nonsyndromic deafness DFNA25 and inner hair cell dysfunction in null mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0022215113003265

A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0022215113003265

Otoferlin interacts with myosin VI: implications for maintenance of the basolateral synaptic structure of the inner hair cell.

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0022215113003265

Association of unconventional myosin MYO15 mutations with human nonsyndromic deafness DFNB3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0022215113003265

Speech perception in children with auditory neuropathy/dyssynchrony managed with either hearing AIDS or cochlear implants

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0022215113003265

Prognostic indicators in paediatric cochlear implant surgery: a systematic literature review

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0022215113003265

Cochlear implantation in children with anomalous cochleovestibular anatomy: a systematic review

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0022215113003265

Forty-six genes causing nonsyndromic hearing impairment: which ones should be analyzed in DNA diagnostics?

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0022215113003265

Genetic epidemiology of hearing impairment

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0022215113003265

Sensorineural hearing loss in children.

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0022215113003265

Projected cost-effectiveness of statewide universal newborn hearing screening.

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0022215113003265

Cochlear implantation in children with auditory neuropathy spectrum disorder: long-term outcomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0022215113003265

7 January 2021

Cochlear gene therapy

1 reference

https://api.crossref.org/works/10.1017%2FS0022215113003265

7 January 2021

Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus

1 reference

https://api.crossref.org/works/10.1017%2FS0022215113003265

7 January 2021

Early hearing detection and intervention programs: opportunities for genetic services

1 reference

https://api.crossref.org/works/10.1017%2FS0022215113003265

7 January 2021

Espin gene (ESPN) mutations associated with autosomal dominant hearing loss cause defects in microvillar elongation or organisation

1 reference

https://api.crossref.org/works/10.1017%2FS0022215113003265

7 January 2021

A Receptor-Like Inositol Lipid Phosphatase Is Required for the Maturation of Developing Cochlear Hair Bundles

1 reference

https://api.crossref.org/works/10.1017%2FS0022215113003265

7 January 2021

10.1017/S0022215113003265

Identifiers

DOI

1 reference

30 August 2017

1 reference