Identification of a novel mutation in SLC26A4 gene in a Chinese family with enlarged vestibular aqueduct syndrome

Zhang, Fengguo; Bai, Xiaohui; Xiao, Yun; Zhang, Xue; Zhang, Guodong; Li, Jianfeng; Xu, Lei; Wang, Haibo

doi:10.1016/j.ijporl.2016.03.020

Cited by 11 publications

(10 citation statements)

References 25 publications

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“…Audiometric assessments consist of auditory brainstem response, pure tone audiometry, distortion product otoacoustic emission, tympanometry, and acoustic stapedial reflex. The classification of deafness was based on the pure tone average (PTA) [ 15 ]. Hearing level was sorted into normal hearing (<25 dBHL), mild deafness (>25 and <40 dBHL), moderate deafness (>40 and <60 dBHL), severe deafness (>61 and <80 dBHL), and profound deafness (>80 dBHL) [ 16 ].…”

Section: Methodsmentioning

confidence: 99%

“…Therefore, the following primers were synthesized: 5′-GATTGCCTGGTACCTCTGGG-3′ and 5′-AGCCTCCTCATCTTCCTGGT-3′ for human MYO15A c.3971C>A and c.4011insA mutations and 5′-TCAGAGGATTGTGCGCCTTT-3′ and 5′-ATGCTCAGTCTTCCTGGCAC-3′ for human MYO15A c.9690+1G>A mutation (BGI Inc., China). The PCR and amplification were performed according to a previous protocol [ 15 ]. Sequence alignment of MYO15A was performed using the DNASTAR software.…”

Section: Methodsmentioning

confidence: 99%

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Three MYO15A Mutations Identified in One Chinese Family with Autosomal Recessive Nonsyndromic Hearing Loss

Zhang

Xiao

et al. 2018

Neural Plasticity

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Hearing impairment is one of the most common sensory disease, of which more than 50% is attributed to a genetic etiology. The goal of this research is to explore the genetic cause of a Chinese deafness pedigree who was excluded of GJB2, SLC26A4, or MtDNA12SrRNA variants. Three variants, c.3971C>A (p.A1324D), c.4011insA (p.Q1337Qfs∗22), and c.9690+1G>A, in the MYO15A gene were identified by targeted capture sequencing and Sanger sequencing, and the first two of them were novel. These variants were cosegregated with the disease in this family and absent in 200 normal hearing persons. They were concluded to be pathogenic mutations by phylogenetic analysis and structure modeling. Thus, the combined use of SNPScan assay and targeted capture sequencing is a high-efficiency and cost-effective screening procedure for hereditary hearing loss. Genetic counseling would be important for this family, and our finding would be a great supplement to the mutation spectrum of MYO15A.

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Section: Methodsmentioning

confidence: 99%

Section: Methodsmentioning

confidence: 99%

Three MYO15A Mutations Identified in One Chinese Family with Autosomal Recessive Nonsyndromic Hearing Loss

Zhang

Xiao

et al. 2018

Neural Plasticity

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“…The following primers were synthesized: 5′-GCCTAATTTGGAAAGCGAGC-3′ and 5′-AAATCCGCGCTGCTCCCAGT-3′ (BGI Inc., China). The PCR and amplification were performed according to a previous protocol [ 26 ]. The sequence of POU3F4 fragment was performed using the DNASTAR software.…”

Section: Methodsmentioning

confidence: 99%

Cochlear Implantation in a Patient with a Novel POU3F4 Mutation and Incomplete Partition Type-III Malformation

et al. 2020

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Aims. This study is aimed at (1) analyzing the clinical manifestations and genetic features of a novel POU3F4 mutation in a nonsyndromic X-linked recessive hearing loss family and (2) reporting the outcomes of cochlear implantation in a patient with this mutation. Methods. A patient who was diagnosed as the IP-III malformation underwent cochlear implantation in our hospital. The genetic analysis was conducted in his family, including the whole-exome sequencing combined with Sanger sequencing and bioinformatic analysis. Clinical features, preoperative auditory and speech performances, and postoperative outcomes of cochlear implant (CI) were assessed on the proband and his family. Results. A novel variant c.400_401insACTC (p.Q136LfsX58) in the POU3F4 gene was detected in the family, which was cosegregated with the hearing loss. This variant was absent in 200 normal-hearing persons. The phylogenetic analysis and structure modeling of Pou3f4 protein further confirmed that the novel mutation was pathogenic. The proband underwent cochlear implantation on the right ear at four years old and gained greatly auditory and speech improvement. However, the benefits of the CI declined about three and a half years postoperation. Though the right ear had been reimplanted, the outcomes were still worse than before. Conclusion. A novel frame shift variant c.400_401insACTC (p.Q136LfsX58) in the POU3F4 gene was identified in a Chinese family with X-linked inheritance hearing loss. A patient with this mutation and IP-III malformation could get good benefits from CI. However, the outcomes of the cochlear implantation might decline as the patient grows old.

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“…A number of mutations in SLC26A4 have been associated with hearing loss in humans (Table ). 5–10% of congenital hearing loss patients have been speculated to have mutations in SLC26A4 (Zhang et al, ). In humans, mutations in SLC26A4 are characterized by Pendred syndrome, a bilateral sensorineural hearing loss with associated thyroid insufficiency (Bizhanova and Kopp, ).…”

Section: Kcnq1/kcne1mentioning

confidence: 99%

“…The vestibular duct is markedly enlarged, and as a result, the cochlea is improperly shifted. This leads to both improper composition of the endolymph and susceptibility to trauma (Wang et al, ; Zhang et al, ). SLC26A4 mutations hat have been localized to exons 17 and 19 generally display recessive inheritance, but heterozygotes will sometimes exhibit the typical bilateral hearing loss.…”

Section: Kcnq1/kcne1mentioning

confidence: 99%

Indispensable Role of Ion Channels and Transporters in the Auditory System

Mittal

Aranke

Debs

et al. 2016

Journal Cellular Physiology

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Ear is a complex system where appropriate ionic composition is essential for maintaining the tissue homeostasis and hearing function. Ion transporters and channels present in the auditory system plays a crucial role in maintaining proper ionic composition in the ear. The extracellular fluid, called endolymph, found in the cochlea of the mammalian inner ear is particularly unique due to its electrochemical properties. At an endocochlear potential of about +80 mV, signaling initiated by acoustic stimuli at the level of the hair cells is dependent on the unusually high potassium (K ) concentration of endolymph. There are ion channels and transporters that exists in the ear to ensure that K is continually being cycled into the stria media endolymph. This review is focused on the discussion of the molecular and genetic basis of previously and newly recognized ion channels and transporters that support sensory hair cell excitation based on recent knock-in and knock-out studies of these channels. This article also addresses the molecular and genetic defects and the pathophysiology behind Meniere's disease as well as how the dysregulation of these ion transporters can result in severe defects in hearing or even deafness. Understanding the role of ion channels and transporters in the auditory system will facilitate in designing effective treatment modalities against ear disorders including Meniere's disease and hearing loss. J. Cell. Physiol. 232: 743-758, 2017. © 2016 Wiley Periodicals, Inc.

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Identification of a novel mutation in SLC26A4 gene in a Chinese family with enlarged vestibular aqueduct syndrome

Cited by 11 publications

References 25 publications

Three MYO15A Mutations Identified in One Chinese Family with Autosomal Recessive Nonsyndromic Hearing Loss

Three MYO15A Mutations Identified in One Chinese Family with Autosomal Recessive Nonsyndromic Hearing Loss

Cochlear Implantation in a Patient with a Novel POU3F4 Mutation and Incomplete Partition Type-III Malformation

Indispensable Role of Ion Channels and Transporters in the Auditory System

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