Genetics of Nonsyndromic Recessively Inherited Moderate to Severe and Progressive Deafness in Humans

Naz, Sadaf

doi:10.5772/31808

Cited by 3 publications

(4 citation statements)

References 117 publications

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“…Among the nonsyndromic forms, up to 85% of inherited deafness is autosomal recessive and exhibits high genetic heterogeneity, with more than 75 associated loci known currently (The Hereditary Hearing Loss Homepage [http://hereditaryhearingloss.org/]). While homozygous mutations in a small subset of the identified genes result in less severe and/or progressive hearing loss [Naz ; Schraders et al., ; Schrauwen et al., ; Yariz et al., ; Girotto et al., ; Horn et al., ], a majority of the known recessive mutations are associated with profound, congenital deafness. Conversely, a high proportion of humans suffer from a progressive or early onset, less severe hearing loss, which suggests that alternative mutations in known or novel genes contributing to this phenotype remain unidentified.…”

Section: Introductionmentioning

confidence: 99%

“…While homozygous mutations Additional Supporting Information may be found in the online version of this article. in a small subset of the identified genes result in less severe and/or progressive hearing loss [Naz 2012;Schraders et al, 2012;Schrauwen et al, 2012;Yariz et al, 2012;Girotto et al, 2013;Horn et al, 2013], a majority of the known recessive mutations are associated with profound, congenital deafness. Conversely, a high proportion of humans suffer from a progressive or early onset, less severe hearing loss, which suggests that alternative mutations in known or novel genes contributing to this phenotype remain unidentified.…”

Section: Introductionmentioning

confidence: 99%

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A Frameshift Mutation inGRXCR2Causes Recessively Inherited Hearing Loss

2014

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More than 360 million humans are affected with some degree of hearing loss, either early or later in life. A genetic cause for the disorder is present in a majority of the cases. We mapped a locus (DFNB101) for hearing loss in humans to chromosome 5q in a consanguineous Pakistani family. Exome sequencing revealed an insertion mutation in GRXCR2 as the cause of moderate to severe and likely progressive hearing loss in the affected individuals of the family. The frameshift mutation is predicted to affect a conserved, cysteine-rich region of GRXCR2, and to result in an abnormal extension of the C-terminus. Functional studies by cell transfections demonstrated that the mutant protein is unstable and mislocalized relative to wild type GRXCR2, consistent with a loss of function mutation. Targeted disruption of Grxcr2 is concurrently reported to cause hearing loss in mice. The structural abnormalities in this animal model suggest a role for GRXCR2 in the development of stereocilia bundles, specialized structures on the apical surface of sensory cells in the cochlea that are critical for sound detection. Our results indicate that GRXCR2 should be considered in differential genetic diagnosis for individuals with early onset, moderate to severe and progressive hearing loss.

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

A Frameshift Mutation inGRXCR2Causes Recessively Inherited Hearing Loss

2014

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“…The hearing process uses acoustic, mechanical and electrical principles and also analyzes the sound waves, removes noises and compares them to signals previously recorded in the memory of the subject. In this way, we know when someone is speaking, when we hear a musical note from a violin or a flute, or when a bird sings (10). Hearing loss: defined as the person who cannot have normal hearing ability, in who hears 25 dB or worse than two ears.…”

Section: Introductionmentioning

confidence: 99%

Comparison of Visual Reaction Values of Elite Deaf Wrestlers and Elite Normally Hearing Wrestlers

Tatlici¹,

Çakmakçi²,

Yılmaz³

et al. 2018

Turkish Journal of Sport and Exercise

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In this study. The research was conducted with the aim of examining the visual reaction values of deaf elite wrestlers (D) and normally hearing elite wrestlers (H). To work. 9 deaf wrestlers (height 179,55±3,74, body weight 78±11, 09) and 9 normally hearing wrestlers who participated in national and international competition were voluntarily joined the research. All of the athletes who are deaf subjects consist of at least 55 dB hearing loss in both ears. The visual hand reaction values of the wrestlers were measured using the electronic reaction time meter Newtest 1000. In the study. all participants' dominant hand were right hand. The data were analyzed using the SPSS (Version 22.0) program. Independent T test was performed to determine the difference between the two groups in which the obtained data showed normal distribution. The significance level was evaluated as p <0.05. In the study findings. The average of right and left hand reaction timing between groups and between intergroup were similar. D group had significantly higher height and body weight averages than group N (P <0.05). As a result, deaf athletes have similar reaction times to normal athletes so it is seen that loss of hearing does not make a difference at least in the result of this study.

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“…In general, the hearing loss associated with dominant inheritance is less severe than that associated with recessive inheritance. A few mutant alleles of some profound deafness‐associated genes such as MYO7A and CDH23 , have been described to cause variable audiological phenotypes as well . The objective of this study was to determine if other genes previously associated with profound deafness also contribute to moderate or severe hearing loss.…”

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Genetic causes of moderate to severe hearing loss point to modifiers

et al. 2016

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The genetic underpinnings of recessively inherited moderate to severe sensorineural hearing loss are not well understood, despite its higher prevalence in comparison to profound deafness. We recruited 92 consanguineous families segregating stable or progressive, recessively inherited moderate or severe hearing loss. We utilized homozygosity mapping, Sanger sequencing, targeted capture of known deafness genes with massively parallel sequencing and whole exome sequencing to identify the molecular basis of hearing loss in these families. Variants of the known deafness genes were found in 69% of the participating families with the SLC26A4, GJB2, MYO15A, TMC1, TMPRSS3, OTOF, MYO7A and CLDN14 genes together accounting for hearing loss in 54% of the families. We identified 20 reported and 21 novel variants in 21 known deafness genes. Sixteen of the twenty reported variants, previously associated with stable, profound deafness were associated with moderate to severe or progressive hearing loss in our families. These data point to a prominent role for genetic background, environmental factors or both as modifiers of human hearing loss severity.

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Genetics of Nonsyndromic Recessively Inherited Moderate to Severe and Progressive Deafness in Humans

Cited by 3 publications

References 117 publications

A Frameshift Mutation inGRXCR2Causes Recessively Inherited Hearing Loss

A Frameshift Mutation inGRXCR2Causes Recessively Inherited Hearing Loss

Comparison of Visual Reaction Values of Elite Deaf Wrestlers and Elite Normally Hearing Wrestlers

Genetic causes of moderate to severe hearing loss point to modifiers

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