Cargando…

Novel Mutations and Mutation Combinations of TMPRSS3 Cause Various Phenotypes in One Chinese Family with Autosomal Recessive Hearing Impairment

Autosomal recessive hearing impairment with postlingual onset is rare. Exceptions are caused by mutations in the TMPRSS3 gene, which can lead to prelingual (DFNB10) as well as postlingual deafness (DFNB8). TMPRSS3 mutations can be classified as mild or severe, and the phenotype is dependent on the c...

Descripción completa

Detalles Bibliográficos
Autores principales:	Gao, Xue, Yuan, Yong-Yi, Wang, Guo-Jian, Xu, Jin-Cao, Su, Yu, Lin, Xi, Dai, Pu
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Hindawi Publishing Corporation 2017
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5303592/ https://www.ncbi.nlm.nih.gov/pubmed/28246597 http://dx.doi.org/10.1155/2017/4707315

Ejemplares similares

Identification of TMPRSS3 as a Significant Contributor to Autosomal Recessive Hearing Loss in the Chinese Population
por: Gao, Xue, et al.
Publicado: (2017)

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

Novel Compound Heterozygous TMC1 Mutations Associated with Autosomal Recessive Hearing Loss in a Chinese Family
por: Gao, Xue, et al.
Publicado: (2013)

Identification of Two Novel Compound Heterozygous PTPRQ Mutations Associated with Autosomal Recessive Hearing Loss in a Chinese Family
por: Gao, Xue, et al.
Publicado: (2015)

Identification of a Novel Homozygous Mutation, TMPRSS3: c.535G>A, in a Tibetan Family with Autosomal Recessive Non-Syndromic Hearing Loss
por: Fan, Dongyan, et al.
Publicado: (2014)

Identification of a Novel MYO15A Mutation in a Chinese Family with Autosomal Recessive Nonsyndromic Hearing Loss
por: Xia, Hong, et al.
Publicado: (2015)

Autosomal Recessive Congenital Sensorineural Hearing Loss due to a Novel Compound Heterozygous PTPRQ Mutation in a Chinese Family
por: Wu, Xia, et al.
Publicado: (2018)

Identification of Novel Compound Heterozygous MYO15A Mutations in Two Chinese Families with Autosomal Recessive Nonsyndromic Hearing Loss
por: Wang, Xiao-Hui, et al.
Publicado: (2021)

Chinese families with autosomal recessive hereditary spastic paraplegia caused by mutations in SPG11
por: Chen, Xueping, et al.
Publicado: (2020)

A frameshift mutation of TMPRSS3 in a Chinese family with non-syndromic hearing loss
por: Liang, Jingwen, et al.
Publicado: (2022)

SPATA5 mutations cause a distinct autosomal recessive phenotype of intellectual disability, hypotonia and hearing loss
por: Buchert, Rebecca, et al.
Publicado: (2016)

Five Novel Mutations in LOXHD1 Gene Were Identified to Cause Autosomal Recessive Nonsyndromic Hearing Loss in Four Chinese Families
por: Bai, Xiaohui, et al.
Publicado: (2020)

A Novel Mutation in the TECTA Gene in a Chinese Family with Autosomal Dominant Nonsyndromic Hearing Loss
por: Su, Yu, et al.
Publicado: (2014)

Corrigendum to “Five Novel Mutations in LOXHD1 Gene Were Identified to Cause Autosomal Recessive Nonsyndromic Hearing Loss in Four Chinese Families”
por: Bai, Xiaohui, et al.
Publicado: (2020)

Compound Heterozygous Mutations in TMC1 and MYO15A Are Associated with Autosomal Recessive Nonsyndromic Hearing Loss in Two Chinese Han Families
por: Xu, Pengcheng, et al.
Publicado: (2020)

Novel compound heterozygous MYO7A mutations in Moroccan families with autosomal recessive non-syndromic hearing loss
por: Bakhchane, Amina, et al.
Publicado: (2017)

VSX2 mutations in autosomal recessive microphthalmia
por: Reis, Linda M., et al.
Publicado: (2011)

Whole-Exome Sequencing Efficiently Detects Rare Mutations in Autosomal Recessive Nonsyndromic Hearing Loss
por: Diaz-Horta, Oscar, et al.
Publicado: (2012)

Autosomal Recessive Nonsyndromic Hearing Loss: A Case Report with a Mutation in TRIOBP Gene
por: Fardaei, Majid, et al.
Publicado: (2015)

Unique autosomal recessive variant of palmoplantar keratoderma associated with hearing loss not caused by known mutations
por: Hegazi, Moustafa Abdelaal, et al.
Publicado: (2017)

Delineation of Novel Autosomal Recessive Mutation in GJA3 and Autosomal Dominant Mutations in GJA8 in Pakistani Congenital Cataract Families
por: Micheal, Shazia, et al.
Publicado: (2018)

Novel compound heterozygous mutations in the MYO15A gene in autosomal recessive hearing loss identified by whole-exome sequencing
por: Gao, Xue, et al.
Publicado: (2013)

Mutations in WDR62 gene in Pakistani families with autosomal recessive primary microcephaly
por: Kousar, Rizwana, et al.
Publicado: (2011)

A mutation in CTSK gene in an autosomal recessive pycnodysostosis family of Pakistani origin
por: Naeem, Muhammad, et al.
Publicado: (2009)

Homozygosity mapping in autosomal recessive retinitis pigmentosa families detects novel mutations
por: Bocquet, Béatrice, et al.
Publicado: (2013)

Mutations in Transglutaminase 1 Gene in Autosomal Recessive Congenital Ichthyosis in Egyptian Families
por: Shawky, R. M., et al.
Publicado: (2004)

Identification of a novel homozygous nonsense mutation in EYS in a Chinese family with autosomal recessive retinitis pigmentosa
por: Huang, Yukan, et al.
Publicado: (2010)

Targeted Next-generation Sequencing Reveals Novel EYS Mutations in Chinese Families with Autosomal Recessive Retinitis Pigmentosa
por: Chen, Xue, et al.
Publicado: (2015)

A novel homozygous TUB mutation associated with autosomal recessive retinitis pigmentosa in a consanguineous Chinese family
por: Xu, Wei, et al.
Publicado: (2023)

Correction: Whole-Exome Sequencing Efficiently Detects Rare Mutations in Autosomal Recessive Nonsyndromic Hearing Loss
por: Diaz-Horta, Oscar, et al.
Publicado: (2013)

Identification of Novel PTPRQ and MYO1A Mutations in An Iranian Pedigree with Autosomal Recessive Hearing Loss
por: Talebi, Farah, et al.
Publicado: (2018)

Mutation of ATF6 causes autosomal recessive achromatopsia
por: Ansar, Muhammad, et al.
Publicado: (2015)

Mutations in RELT cause autosomal recessive amelogenesis imperfecta
por: Kim, Jung‐Wook, et al.
Publicado: (2018)

De novo mutations in autosomal recessive congenital malformations
por: Black, Holly A., et al.
Publicado: (2016)

Autosomal Recessive Transmission of MYBPC3 Mutation Results in Malignant Phenotype of Hypertrophic Cardiomyopathy
por: Wang, Yilu, et al.
Publicado: (2013)

Genetic Spectrum of Autosomal Recessive Non-Syndromic Hearing Loss in Pakistani Families
por: Shafique, Sobia, et al.
Publicado: (2014)

Comprehensive Analysis of Deafness Genes in Families with Autosomal Recessive Nonsyndromic Hearing Loss
por: Atik, Tahir, et al.
Publicado: (2015)

Phenotypic Variation of Autosomal Recessive Leber Hereditary Optic Neuropathy (arLHON) in One Family
por: Pojda-Wilczek, Dorota, et al.
Publicado: (2022)

Whole-exome sequencing identifies MYO15A mutations as a cause of autosomal recessive nonsyndromic hearing loss in Korean families
por: Woo, Hae-Mi, et al.
Publicado: (2013)

Whole exome sequencing reveals novel EYS mutations in Chinese patients with autosomal recessive retinitis pigmentosa
por: Xiao, Xiaoqiang, et al.
Publicado: (2019)

Cannot write session to /tmp/vufind_sessions/sess_ekmol0h857gdmqa0vki662s49k