Cargando…

Whole-Exome Sequencing Efficiently Detects Rare Mutations in Autosomal Recessive Nonsyndromic Hearing Loss

Identification of the pathogenic mutations underlying autosomal recessive nonsyndromic hearing loss (ARNSHL) is difficult, since causative mutations in 39 different genes have so far been reported. After excluding mutations in the most common ARNSHL gene, GJB2, via Sanger sequencing, we performed wh...

Descripción completa

Detalles Bibliográficos
Autores principales:	Diaz-Horta, Oscar, Duman, Duygu, Foster, Joseph, Sırmacı, Aslı, Gonzalez, Michael, Mahdieh, Nejat, Fotouhi, Nikou, Bonyadi, Mortaza, Cengiz, Filiz Başak, Menendez, Ibis, Ulloa, Rick H., Edwards, Yvonne J. K., Züchner, Stephan, Blanton, Susan, Tekin, Mustafa
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Public Library of Science 2012
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3511533/ https://www.ncbi.nlm.nih.gov/pubmed/23226338 http://dx.doi.org/10.1371/journal.pone.0050628

Ejemplares similares

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

Comprehensive Analysis via Exome Sequencing Uncovers Genetic Etiology in Autosomal Recessive Non-Syndromic Deafness in a Large Multiethnic Cohort
por: Bademci, Guney, et al.
Publicado: (2015)

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

Identification of candidate gene FAM183A and novel pathogenic variants in known genes: High genetic heterogeneity for autosomal recessive intellectual disability
por: McSherry, Megan, et al.
Publicado: (2018)

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

Autosomal Recessive Nonsyndromic Hearing Impairment due to a Novel Deletion in the RDX Gene
por: Lee, Kwanghyuk, et al.
Publicado: (2011)

A Novel LINS1 Truncating Mutation in Autosomal Recessive Nonsyndromic Intellectual Disability
por: Muthusamy, Babylakshmi, et al.
Publicado: (2020)

Further evidence of involvement of TMEM132E in autosomal recessive nonsyndromic hearing impairment
por: Liaqat, Khurram, et al.
Publicado: (2019)

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

A new Otogelin ENU mouse model for autosomal-recessive nonsyndromic moderate hearing impairment
por: El Hakam Kamareddin, Carole, et al.
Publicado: (2015)

Correction: Further evidence of involvement of TMEM132E in autosomal recessive nonsyndromic hearing impairment
por: Liaqat, Khurram, et al.
Publicado: (2021)

Evaluation of the GJB2 and GJB6 Polymorphisms with Autosomal Recessive Nonsyndromic Hearing Loss in Iranian Population
por: Ebrahimkhani, Somayeh, et al.
Publicado: (2021)

ADAMTS1, MPDZ, MVD, and SEZ6: candidate genes for autosomal recessive nonsyndromic hearing impairment
por: Bharadwaj, Thashi, et al.
Publicado: (2021)

A case of autosomal recessive hypercholesterolemia with a novel mutation in the LDLRAP1 gene
por: Nikasa, Parisa, et al.
Publicado: (2021)

Single Nucleotide Polymorphisms of the GJB2 and GJB6 Genes Are Associated with Autosomal Recessive Nonsyndromic Hearing Loss
por: Grillo, Ana Paula, et al.
Publicado: (2015)

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

Novel homozygous variants in the TMC1 and CDH23 genes cause autosomal recessive nonsyndromic hearing loss
por: Zardadi, Safoura, et al.
Publicado: (2020)

A Novel ESRRB Deletion Is a Rare Cause of Autosomal Recessive Nonsyndromic Hearing Impairment among Pakistani Families
por: Lee, Kwanghyuk, et al.
Publicado: (2011)

Exome sequencing identifies a mutation in TMC1 as a novel cause of autosomal recessive nonsyndromic hearing loss
por: Hu, Jiongjiong, et al.
Publicado: (2016)

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

Identification of Novel and Recurrent Variants in MYO15A in Ashkenazi Jewish Patients With Autosomal Recessive Nonsyndromic Hearing Loss
por: Booth, Kevin T., et al.
Publicado: (2021)

Novel Variant in CEP250 Causes Protein Mislocalization and Leads to Nonsyndromic Autosomal Recessive Type of Progressive Hearing Loss
por: Kang, Minjin, et al.
Publicado: (2023)

PKHD1L1, A Gene Involved in the Stereociliary Coat, Causes Autosomal Recessive Nonsyndromic Hearing Loss
por: Redfield, Shelby E., et al.
Publicado: (2023)

Spectrum of MYO7A Mutations in an Indigenous South African Population Further Elucidates the Nonsyndromic Autosomal Recessive Phenotype of DFNB2 to Include Both Homozygous and Compound Heterozygous Mutations
por: Kabahuma, Rosemary Ida, et al.
Publicado: (2021)

A novel deletion mutation in the TUSC3 gene in a consanguineous Pakistani family with autosomal recessive nonsyndromic intellectual disability
por: Khan, Muzammil Ahmad, et al.
Publicado: (2011)

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)

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)

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)

GJB2 c.235delC variant associated with autosomal recessive nonsyndromic hearing loss and auditory neuropathy spectrum disorder
por: Xia, Hong, et al.
Publicado: (2019)

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)

SIGMAR1 mutation associated with autosomal recessive Silver-like syndrome
por: Horga, Alejandro, et al.
Publicado: (2016)

A new autosomal recessive nonsyndromic hearing impairment locus DFNB96 on chromosome 1p36.31-p36.13
por: Ansar, Muhammad, et al.
Publicado: (2011)

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)

Autosomal recessive nonsyndromic hearing impairment in two Finnish families due to the population enriched CABP2 c.637+1G>T variant
por: Bharadwaj, Thashi, et al.
Publicado: (2022)

Challenges in Whole Exome Sequencing: An Example from Hereditary Deafness
por: Sirmaci, Asli, et al.
Publicado: (2012)

Autosomal recessive cerebellar ataxias
por: Palau, Francesc, et al.
Publicado: (2006)

Autosomal Recessive Stickler Syndrome
por: Nixon, Thomas R. W., et al.
Publicado: (2022)

Dominant deafness–onychodystrophy syndrome caused by an ATP6V1B2 mutation
por: Menendez, Ibis, et al.
Publicado: (2017)

Clinical Application of Screening for GJB2 Mutations before Cochlear Implantation in a Heterogeneous Population with High Rate of Autosomal Recessive Nonsyndromic Hearing Loss
por: Motasaddi Zarandy, Masoud, et al.
Publicado: (2011)

Cannot write session to /tmp/vufind_sessions/sess_8d2vu29i5n65psd4k7moa6tp6e