Cargando…

Novel homozygous variants in the TMC1 and CDH23 genes cause autosomal recessive nonsyndromic hearing loss

BACKGROUND: Hereditary hearing loss (HL) is a heterogeneous and most common sensory neural disorder. At least, 76 genes have been reported in association with autosomal recessive nonsyndromic HL (ARNSHL). Herein, we subjected two patients with bilateral sensorineural HL in two distinct consanguineou...

Descripción completa

Detalles Bibliográficos
Autores principales:	Zardadi, Safoura, Razmara, Ehsan, Asgaritarghi, Golareh, Jafarinia, Ehsan, Bitarafan, Fatemeh, Rayat, Sima, Almadani, Navid, Morovvati, Saeid, Garshasbi, Masoud
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2020
Materias:	Original Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7767568/ https://www.ncbi.nlm.nih.gov/pubmed/33205915 http://dx.doi.org/10.1002/mgg3.1550

Ejemplares similares

The first case of NSHL by direct impression on EYA1 gene and identification of one novel mutation in MYO7A in the Iranian families
por: Razmara, Ehsan, et al.
Publicado: (2018)

Novel manifestations of Warburg micro syndrome type 1 caused by a new splicing variant of RAB3GAP1: a case report
por: Khalesi, Raziyeh, et al.
Publicado: (2021)

Waardenburg syndrome type 2A in a large Iranian family with a novel MITF gene mutation
por: Zardadi, Safoura, et al.
Publicado: (2021)

Three Novel Variants identified in FBN1 and TGFBR2 in seven Iranian families with suspected Marfan syndrome
por: Bitarafan, Fatemeh, et al.
Publicado: (2020)

A homozygote variant in the tRNA splicing endonuclease subunit 54 causes pontocerebellar hypoplasia in a consanguineous Iranian family
por: Sepahvand, Afrooz, et al.
Publicado: (2020)

Association study between polymorphisms in MIA3, SELE, SMAD3 and CETP genes and coronary artery disease in an Iranian population
por: Rayat, Sima, et al.
Publicado: (2022)

Four mutations in MITF, SOX10 and PAX3 genes were identified as genetic causes of waardenburg syndrome in four unrelated Iranian patients: case report
por: Zardadi, Safoura, et al.
Publicado: (2021)

Symptomatic care of late-onset Alexander disease presenting with area postrema-like syndrome with prednisolone; a case report
por: Zardadi, Safoura, et al.
Publicado: (2022)

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

Analysis of TMIE gene mutations including the first large deletion of exon 1 with autosomal recessive non-syndromic deafness
por: Rayat, Sima, et al.
Publicado: (2022)

Identification of a Novel Splice Site Mutation in RUNX2 Gene in a Family with Rare Autosomal Dominant Cleidocranial Dysplasia
por: Jamali, Ebrahim, et al.
Publicado: (2021)

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)

Whole-exome sequencing identifies R1279X of MYH6 gene to be associated with congenital heart disease
por: Razmara, Ehsan, et al.
Publicado: (2018)

Identification of novel variants in Iranian consanguineous pedigrees with nonsyndromic hearing loss by next‐generation sequencing
por: Bitarafan, Fatemeh, et al.
Publicado: (2020)

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

A novel mutation in the glutaryl‐CoA dehydrogenase gene (GCDH) in an Iranian patient affected with Glutaric acidemia type 1
por: Rayat, Sima, et al.
Publicado: (2021)

Prevalence and clinical features of autosomal dominant and recessive TMC1-associated hearing loss
por: Nishio, Shin-ya, et al.
Publicado: (2021)

TMC1 may be a common gene for nonsyndromic hereditary hearing loss in Indian population
por: Singh, Pawan Kumar, et al.
Publicado: (2014)

Novel imaging and clinical phenotypes of CONDSIAS disorder caused by a homozygous frameshift variant of ADPRHL2: a case report
por: Aryan, Hajar, et al.
Publicado: (2020)

Novel Homozygous Pathogenic Mutations of LAMA 2 Gene in Patients with Congen ital Muscular Dystrophy
por: KHODAENIA, Negar, et al.
Publicado: (2021)

Whole‐exome sequencing identified first homozygous frameshift variant in the COLEC10 gene in an Iranian patient causing 3MC syndrome type 3
por: Mohammadi, Pouria, et al.
Publicado: (2021)

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

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

GJB2 mutations in Iranian Azeri population with autosomal recessive nonsyndromic hearing loss (ARNSHL): First report of c.238 C>A mutation in Iran
por: Abbaspour Rodbaneh, Ehsan, et al.
Publicado: (2021)

Identification of a novel MICU1 nonsense variant causes myopathy with extrapyramidal signs in an Iranian consanguineous family
por: Bitarafan, Fatemeh, et al.
Publicado: (2021)

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

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)

Combination treatment of dendrosomal nanocurcumin and low-level laser therapy develops proliferation and migration of mouse embryonic fibroblasts and alter TGF-β, VEGF, TNF-α and IL-6 expressions involved in wound healing process
por: Ebrahiminaseri, Afsaneh, et al.
Publicado: (2021)

Identification of three novel homozygous variants in COL9A3 causing autosomal recessive Stickler syndrome
por: Rad, Aboulfazl, et al.
Publicado: (2022)

Molecular genetic analysis of polycystic kidney disease 1 and polycystic kidney disease 2 mutations in pedigrees with autosomal dominant polycystic kidney disease
por: Bitarafan, Fatemeh, et al.
Publicado: (2019)

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)

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)

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)

Mutation Screening of Exons 7 and 13 of the TMC1 Gene in Autosomal Recessive Non-syndromic Hearing Loss (ARNSHL) in Iran
por: Moradipour, Negar, et al.
Publicado: (2016)

A novel EVER1 polymorphism of epidermodysplasia verruciformis: Homozygous TMC6 c.718del
por: Kenny, Bret, et al.
Publicado: (2022)

Identification of Novel CDH23 Variants Causing Moderate to Profound Progressive Nonsyndromic Hearing Loss
por: Ramzan, Khushnooda, et al.
Publicado: (2020)

Cannot write session to /tmp/vufind_sessions/sess_trlnnc9g4vig2c3a6bt33apaut