Cargando…

A Connexin Gene (GJB3) Mutation in a Chinese Family With Erythrokeratodermia Variabilis, Ichthyosis and Nonsyndromic Hearing Loss: Case Report and Mutations Update

Background: Gap junctions formed by connexins are channels on cytoplasm functioning in ion recycling and homeostasis. Some members of connexin family including connexin 31 are significant components in human skin and cochlea. In clinic, mutations of connexin 31 have been revealed as the cause of a r...

Descripción completa

Detalles Bibliográficos
Autores principales:	Gao, Yajuan, Zhang, Qianli, Zhang, Shiyu, Yang, Lu, Liu, Yaping, Liu, Yuehua, Wang, Tao
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2022
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9168653/ https://www.ncbi.nlm.nih.gov/pubmed/35677558 http://dx.doi.org/10.3389/fgene.2022.797124

Ejemplares similares

Exome sequencing identifies novel compound heterozygous mutations in GJB3 gene that cause erythrokeratodermia variabilis et progressiva
por: Deng, Yongqiong, et al.
Publicado: (2018)

Erythrokeratodermia variabilis with hypertrichosis on the lesions
por: Wu, Jian-Ping, et al.
Publicado: (2020)

Erythrokeratodermia variabilis: Two case reports
por: Karadag, Ayse Serap, et al.
Publicado: (2013)

A Case of Erythrokeratodermia Variabilis in Korean
por: Oh, Dae Young, et al.
Publicado: (2019)

Expanding the clinical phenotype associated with NIPAL4 mutation: Study of a Tunisian consanguineous family with erythrokeratodermia variabilis—Like Autosomal Recessive Congenital Ichthyosis
por: Charfeddine, Cherine, et al.
Publicado: (2021)

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

Frequency of c.35delG Mutation in GJB2 Gene (Connexin 26) in Syrian Patients with Nonsyndromic Hearing Impairment
por: Kaheel, Hazem, et al.
Publicado: (2017)

A heterozygous mutation in GJA1 gene in Chinese family with serious erythrokeratodermia variabilis et progressive
por: Guo, Bi-Rong, et al.
Publicado: (2019)

Two de novo GJA1 mutation in two sporadic patients with erythrokeratodermia variabilis et progressiva
por: Li, Changxing, et al.
Publicado: (2019)

Partial Loss of Function ABCA12 Mutations Generate Reduced Deposition of Glucosyl-Ceramide, Leading to Patchy Ichthyosis and Erythrodermia Resembling Erythrokeratodermia Variabilis et Progressiva (EKVP)
por: Terrinoni, Alessandro, et al.
Publicado: (2023)

Connexin 26 (GJB2) mutation in an Argentinean patient with keratitis-ichthyosis-deafness (KID) syndrome: a case report
por: Dalamón, Viviana Karina, et al.
Publicado: (2016)

Analysis of Genetic Variations in Connexin 26 ( GJB2 ) Gene among Nonsyndromic Hearing Impairment: Familial Study
por: Hegde, Smita, et al.
Publicado: (2022)

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

Dominant de novo mutations in GJA1 cause erythrokeratodermia variabilis et progressiva, without features of oculodentodigital dysplasia
por: Boyden, Lynn M., et al.
Publicado: (2014)

Erythrokeratoderma variabilis (EKV) – First Nepalese case documenting GJB3 mutation
por: Shah, M., et al.
Publicado: (2021)

Frequency of GJB2 mutations in patients with nonsyndromic hearing loss from an ethnically characterized Brazilian population()
por: Felix, Felippe, et al.
Publicado: (2017)

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

Genetic mutations of GJB2 and mitochondrial 12S rRNA in nonsyndromic hearing loss in Jiangsu Province of China
por: Wei, Qinjun, et al.
Publicado: (2013)

Keratitis-Ichthyosis-Deafness Syndrome, Atypical Connexin GJB2 Gene Mutation, and Peripheral T-Cell Lymphoma: More Than a Random Association?
por: Fozza, Claudio, et al.
Publicado: (2011)

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)

Interrogation of Carboxy-Terminus Localized GJA1 Variants Associated with Erythrokeratodermia Variabilis et Progressiva
por: Lucaciu, Sergiu A., et al.
Publicado: (2022)

Evaluation of electrocardiographic parameters in patients with hearing loss genotyped for the connexin 26 gene (GJB2) mutations()
por: Sanecka, Agnieszka, et al.
Publicado: (2016)

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

The Functional Role of CONNEXIN 26 Mutation in Nonsyndromic Hearing Loss, Demonstrated by Zebrafish Connexin 30.3 Homologue Model
por: Su, Hsuan-An, et al.
Publicado: (2020)

GJB2 and GJB6 Mutations in Non-Syndromic Childhood Hearing Impairment in Ghana
por: Adadey, Samuel M., et al.
Publicado: (2019)

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)

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)

A novel homozygous mutation of GJB2—A new variant of keratitis-ichthyosis-deafness syndrome?
por: Hamadah, Issam, et al.
Publicado: (2019)

Erratum: GJB2 and GJB6 Mutations in Non-Syndromic Childhood Hearing Impairment in Ghana
Publicado: (2019)

GJB2 and GJB6 Mutations in Hereditary Recessive Non-Syndromic Hearing Impairment in Cameroon
por: Tingang Wonkam, Edmond, et al.
Publicado: (2019)

Genetics of Hearing Loss in North Iran Population: An Update of Spectrum and Frequency of GJB2 Mutations
por: Koohiyan, Mahbobeh, et al.
Publicado: (2019)

Absence of mutations in GJB2 (Connexin-26) gene in an ethnic group of southwest Iran
por: Galehdari, Hamid, et al.
Publicado: (2009)

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)

Connexin 26 (GJB2) gene mutations linked with autosomal recessive non-syndromic sensor neural hearing loss in the Iraqi population
por: Al-janabi, Anwar Madlool, et al.
Publicado: (2021)

Functional Evaluation of a Rare Variant c.516G>C (p.Trp172Cys) in the GJB2 (Connexin 26) Gene Associated with Nonsyndromic Hearing Loss
por: Maslova, Ekaterina A., et al.
Publicado: (2021)

Non-syndromic hearing loss caused by the dominant cis mutation R75Q with the recessive mutation V37I of the GJB2 (Connexin 26) gene
por: Kim, Juwon, et al.
Publicado: (2015)

Hearing Phenotypes of Patients with Hearing Loss Homozygous for the GJB2 c.235delc Mutation
por: Guo, Chang, et al.
Publicado: (2020)

Prevalence of the GJB2 IVS1+1G >A mutation in Chinese hearing loss patients with monoallelic pathogenic mutation in the coding region of GJB2
por: Yuan, Yongyi, et al.
Publicado: (2010)

Novel ELOVL4 mutation associated with erythrokeratodermia and spinocerebellar ataxia (SCA 34)
por: Bourque, Pierre R., et al.
Publicado: (2018)

Cannot write session to /tmp/vufind_sessions/sess_6b1ocnrogtk1i0lh77oftn9ktj