Cargando…

A Novel Missense WFS1 Variant: Expanding the Mutational Spectrum Associated with Nonsyndromic Low-Frequency Sensorineural Hearing Loss

BACKGROUND: Nonsyndromic low-frequency sensorineural hearing loss (LFSNHL) is an uncommon form of hearing loss (HL) that typically affects frequencies at 2000 Hz and below. Heterozygous variants in the WFS1 gene at the DFNA6/14/38 locus are considered a common cause of LFSNHL. To date, 34 different...

Descripción completa

Detalles Bibliográficos
Autores principales:	Ma, Jingyu, Wang, Rongrong, Zhang, Li, Wang, Shanshan, Tong, Shuqing, Bai, Xiaohui, Lu, Zhiming
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Hindawi 2022
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9550458/ https://www.ncbi.nlm.nih.gov/pubmed/36225977 http://dx.doi.org/10.1155/2022/5068869

Ejemplares similares

Recurrent de novo WFS1 pathogenic variants in Chinese sporadic patients with nonsyndromic sensorineural hearing loss
por: Guan, Jing, et al.
Publicado: (2020)

MITF variants cause nonsyndromic sensorineural hearing loss with autosomal recessive inheritance
por: Thongpradit, Supranee, et al.
Publicado: (2020)

Prevalence of mitochondrial DNA mutations in sporadic patients with nonsyndromic sensorineural hearing loss()
por: Jiang, Hua, et al.
Publicado: (2015)

Bilateral Nonsyndromic Sensorineural Hearing Loss Caused by a NARS2 Mutation
por: Al-Sharif, Fawzia, et al.
Publicado: (2022)

A novel WFS1 mutation in a family with dominant low frequency sensorineural hearing loss with normal VEMP and EcochG findings
por: Bramhall, Naomi F, et al.
Publicado: (2008)

Whole-exome sequencing identified a missense mutation in WFS1 causing low-frequency hearing loss: a case report
por: Choi, Hye Ji, et al.
Publicado: (2017)

Missense variant in LOXHD1 is associated with canine nonsyndromic hearing loss
por: Hytönen, Marjo K., et al.
Publicado: (2021)

A Novel Missense Mutation in the Connexin30 Causes Nonsyndromic Hearing Loss
por: Wang, Wen-Hung, et al.
Publicado: (2011)

Novel homozygous variant in the PDZD7 gene in a family with nonsyndromic sensorineural hearing loss
por: Du, Qiang, et al.
Publicado: (2022)

Missense Variant of Endoplasmic Reticulum Region of WFS1 Gene Causes Autosomal Dominant Hearing Loss without Syndromic Phenotype
por: Li, Jinying, et al.
Publicado: (2021)

Heterozygous missense variants of LMX1A lead to nonsyndromic hearing impairment and vestibular dysfunction
por: Wesdorp, Mieke, et al.
Publicado: (2018)

Identification of homozygous missense variant in SIX5 gene underlying recessive nonsyndromic hearing impairment
por: Kakar, Mohib Ullah, et al.
Publicado: (2022)

A novel missense variant in CEACAM16 gene causes autosomal dominant nonsyndromic hearing loss
por: Zhang, Dejun, et al.
Publicado: (2022)

GJB2 mutation spectrum in 2063 Chinese patients with nonsyndromic hearing impairment
por: Dai, Pu, et al.
Publicado: (2009)

A novel mutation in the WFS1 gene identified in a Taiwanese family with low-frequency hearing impairment
por: Tsai, Hsun-Tien, et al.
Publicado: (2007)

Clinical characteristics and prognosis of acute low-frequency hearing loss and ascending sensorineural sudden sensorineural hearing loss
por: Diao, Tongxiang, et al.
Publicado: (2023)

Contribution of SLC26A4 to the molecular diagnosis of nonsyndromic prelingual sensorineural hearing loss in a Brazilian cohort
por: Carvalho, Simone da Costa e Silva, et al.
Publicado: (2018)

Sequence variants in genes causing nonsyndromic hearing loss in a Pakistani cohort
por: Khan, Amjad, et al.
Publicado: (2019)

A homozygous missense mutation of WFS1 gene causes Wolfram's syndrome without hearing loss in an Iranian family (a report of clinical heterogeneity)
por: Torkamandi, Shahram, et al.
Publicado: (2020)

Vulnerable frequency as an independent prognostic factor for sudden sensorineural hearing loss
por: Liang, Chaoqun, et al.
Publicado: (2022)

A novel MYH14 mutation in a Chinese family with autosomal dominant nonsyndromic hearing loss
por: Wang, Mingming, et al.
Publicado: (2020)

Genetics of Nonsyndromic Congenital Hearing Loss
por: Egilmez, Oguz Kadir, et al.
Publicado: (2016)

A novel mutation in 3’UTR of GJB2 gene in autosomal recessive nonsyndromic sensorineural hearing loss in South Indian population
por: sebastian, Maria, et al.
Publicado: (2014)

A Novel De Novo Dominant Mutation in GJB2 Gene Associated with a Sporadic Case of Nonsyndromic Sensorineural Hearing Loss
por: ONSORI, Habib, et al.
Publicado: (2014)

Mutation Analysis of the Common Deafness Genes in Patients with Nonsyndromic Hearing Loss in Linyi by SNPscan Assay
por: Zhang, Fengguo, et al.
Publicado: (2016)

A recurrent missense variant in HARS2 results in variable sensorineural hearing loss in three unrelated families
por: Demain, Leigh A. M., et al.
Publicado: (2019)

A homozygous AP3D1 missense variant in patients with sensorineural hearing loss as the leading manifestation
por: Frohne, Alexandra, et al.
Publicado: (2022)

Prevalence of TECTA mutation in patients with mid-frequency sensorineural hearing loss
por: Yamamoto, Nobuko, et al.
Publicado: (2017)

Low-Frequency Sensorineural Hearing Loss Associated With Iron-Deficiency Anemia
por: Taki, Masakatsu, et al.
Publicado: (2021)

Comprehensive molecular-genetic analysis of mid-frequency sensorineural hearing loss
por: Pavlenkova, Zuzana, et al.
Publicado: (2021)

Three MYO15A Mutations Identified in One Chinese Family with Autosomal Recessive Nonsyndromic Hearing Loss
por: Zhang, Fengguo, et al.
Publicado: (2018)

NLRP3 Is Expressed in the Spiral Ganglion Neurons and Associated with Both Syndromic and Nonsyndromic Sensorineural Deafness
por: Chen, Penghui, et al.
Publicado: (2016)

Screening of Connexin 26 in Nonsyndromic Hearing Loss
por: Moreira, Danielle, et al.
Publicado: (2014)

The prognostic value of peripheral blood parameters on all-frequency sudden sensorineural hearing loss
por: Sun, Hongcun, et al.
Publicado: (2023)

Developing regional genetic counseling for southern Chinese with nonsyndromic hearing impairment: a unique mutational spectrum
por: Chen, Kaitian, et al.
Publicado: (2014)

Association of R1939W and P1987R variants of Otoferlin (OTOF) gene with severe to profound nonsyndromic sensorineural hearing loss in Pakistani subjects
por: Naseer, Hammael, et al.
Publicado: (2023)

The relationship between hearing aid frequency response and acceptable noise level in patients with sensorineural hearing loss
por: Jalilvand, Hamid, et al.
Publicado: (2015)

A novel missense mutation in SMPX causes a rare form of X-linked postlingual sensorineural hearing loss in a Chinese family
por: Guo, Yingyuan, et al.
Publicado: (2021)

Expanding unilateral cochlear implantation criteria for adults with bilateral acquired severe sensorineural hearing loss
por: Huinck, Wendy J., et al.
Publicado: (2019)

Idiopathic sensorineural hearing loss in the only hearing ear
por: Berrettini, S., et al.
Publicado: (2016)

Cannot write session to /tmp/vufind_sessions/sess_ibltcupp6m6qvhep18r943mrdd