Cargando…

Clinical Auditory Phenotypes Associated with GATA3 Gene Mutations in Familial Hypoparathyroidism-deafness-renal Dysplasia Syndrome

BACKGROUND: Hypoparathyroidism-deafness-renal dysplasia (HDR) syndrome is an autosomal dominant disorder primarily caused by haploinsufficiency of GATA binding protein 3 (GATA3) gene mutations, and hearing loss is the most frequent phenotypic feature. This study aimed at identifying the causative ge...

Descripción completa

Detalles Bibliográficos
Autores principales:	Wang, Li, Lin, Qiong-Fen, Wang, Hong-Yang, Guan, Jing, Lan, Lan, Xie, Lin-Yi, Yu, Lan, Yang, Ju, Zhao, Cui, Liang, Jin-Long, Zhou, Han-Lin, Yang, Huan-Ming, Xiong, Wen-Ping, Zhang, Qiu-Jing, Wang, Da-Yong, Wang, Qiu-Ju
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Medknow Publications & Media Pvt Ltd 2017
Materias:	Original Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5358421/ https://www.ncbi.nlm.nih.gov/pubmed/28303854 http://dx.doi.org/10.4103/0366-6999.201600

Ejemplares similares

A Novel Mutation in GATA3 Gene in a Case of Hypoparathyroidism, Deafness, and Renal Dysplasia Syndrome
por: Prabhu, Pooja Prakash, et al.
Publicado: (2023)

Hypoparathyroidism, sensorineural deafness, and renal dysgenesis syndrome with a GATA3 mutation
por: Shim, Yong Suk, et al.
Publicado: (2015)

A Novel De novo GATA-binding Protein 3 Mutation in a Patient with Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia Syndrome
por: Chu, Xue-Ying, et al.
Publicado: (2017)

A Novel De Novo GATA Binding Protein 3 Mutation in a Turkish Boy with Hypoparathyroidism, Deafness, and Renal Dysplasia Syndrome
por: Yeşiltepe Mutlu, Gül, et al.
Publicado: (2015)

Serum Bilirubin Level as a Potential Marker for the Hearing Outcome in Severe-Profound Bilateral Sudden Deafness
por: Bing, Dan, et al.
Publicado: (2019)

The First Turkish Case of Hypoparathyroidism, Deafness and Renal Dysplasia (HDR) Syndrome
por: Döneray, Hakan, et al.
Publicado: (2015)

Hypoparathyroidism, deafness and renal dysplasia syndrome caused by a GATA3 splice site mutation leading to the activation of a cryptic splice site
por: Gonçalves, Catarina I., et al.
Publicado: (2023)

Phenotype prediction of Mohr-Tranebjaerg syndrome (MTS) by genetic analysis and initial auditory neuropathy
por: Wang, Hongyang, et al.
Publicado: (2019)

Auditory Neuropathy as the Initial Phenotype for Patients With ATP1A3 c.2452 G > A: Genotype–Phenotype Study and CI Management
por: Wang, Wenjia, et al.
Publicado: (2021)

High Frequency of AIFM1 Variants and Phenotype Progression of Auditory Neuropathy in a Chinese Population
por: Wang, Hongyang, et al.
Publicado: (2020)

A novel loss-of-function mutation of GATA3 (p.R299Q) in a Japanese family with Hypoparathyroidism, Deafness, and Renal Dysplasia (HDR) syndrome
por: Okawa, Tetsuji, et al.
Publicado: (2015)

Unusual Proliferative Glomerulonephritis in a Patient Diagnosed to Have Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia (HDR) Syndrome with a Novel Mutation in the GATA3 Gene
por: Kamezaki, Michitsugu, et al.
Publicado: (2017)

Living‐donor kidney transplantation for a patient with hypoparathyroidism, deafness, and renal dysplasia syndrome
por: Nishimura, Nobutaka, et al.
Publicado: (2020)

Postoperative hypoparathyroidism after thyroid operation and exploration of permanent hypoparathyroidism evaluation
por: Wang, Xi, et al.
Publicado: (2023)

Tumoral calcinosis in a patient with hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome undergoing hemodialysis
por: Hiramatsu, Rikako, et al.
Publicado: (2015)

A case of hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome with a novel frameshift variant in GATA3, p.W10Cfs40, lacks kidney malformation
por: Kishi, Haruka, et al.
Publicado: (2020)

Phenotypic Heterogeneity of Post-lingual and/or Milder Hearing Loss for the Patients With the GJB2 c.235delC Homozygous Mutation
por: Wang, Hongyang, et al.
Publicado: (2021)

Lung squamous cell carcinoma associated with hypoparathyroidism with sensorineural deafness and renal dysplasia syndrome: a case report
por: Kojima, Mariko, et al.
Publicado: (2018)

A Novel GATA3 Variant Causing Familial Hypoparathyroidism, Renal Agenesis and Sensorineural Deafness Presenting With Atypical Symptoms of Chronic Hypocalcaemia
por: Gaur, Smriti, et al.
Publicado: (2021)

Ahsa1 and Hsp90 activity confers more severe craniofacial phenotypes in a zebrafish model of hypoparathyroidism, sensorineural deafness and renal dysplasia (HDR)
por: Sheehan-Rooney, Kelly, et al.
Publicado: (2013)

Hypoparathyroidism, Sensorineural deafness and renal disease (Barakat syndrome) caused by a reduced gene dosage in GATA3: a case report and review of literature
por: Joseph, Anne D. D., et al.
Publicado: (2019)

Identification of four TMC1 variations in different Chinese families with hereditary hearing loss
por: Wang, Hongyang, et al.
Publicado: (2018)

A Novel TBX1 Variant Causing Hypoparathyroidism and Deafness
por: Alghamdi, Malak, et al.
Publicado: (2019)

Identification of Two Disease-causing Genes TJP2 and GJB2 in a Chinese Family with Unconditional Autosomal Dominant Nonsyndromic Hereditary Hearing Impairment
por: Wang, Hong-Yang, et al.
Publicado: (2015)

A POU3F4 Mutation Causes Nonsyndromic Hearing Loss in a Chinese X-linked Recessive Family
por: Du, Wan, et al.
Publicado: (2017)

CORRIGENDUM FOR “A Novel TBX1 Variant Causing Hypoparathyroidism and Deafness”
Publicado: (2020)

Further evidence for “gain-of-function” mechanism of DFNA5 related hearing loss
por: Wang, Hongyang, et al.
Publicado: (2018)

HDR Syndrome (Hypoparathyroidism, Sensorineural Deafness and Renal Disease) Accompanied by Hirschsprung Disease
por: Sepahi, Mohsen Akhavan, et al.
Publicado: (2010)

Hypoparathyroidism, Sensorineural Deafness, and Renal Disease Syndrome Presenting With Febrile Seizures and Hypocalcemia
por: Gandolfi, Anne, et al.
Publicado: (2023)

The audiological characteristics of infant auditory neuropathy patients without otoacoustic emission
por: Wu, Kaili, et al.
Publicado: (2022)

Delayed Diagnosis of Congenital Hypoparathyroidism in a Kindred of Three Patients With Autosomal Dominant Deafness
por: Dandurand, Karel, et al.
Publicado: (2021)

Activated Notch Causes Deafness by Promoting a Supporting Cell Phenotype in Developing Auditory Hair Cells
por: Savoy-Burke, Grace, et al.
Publicado: (2014)

Editorial: Changes in the auditory brain following deafness, cochlear implantation, and auditory training, volume II
por: Zhang, Fawen, et al.
Publicado: (2023)

Hypoparathyroidism with Fahr’s syndrome: A case report and review of the literature
por: Zhou, Yuan-Yuan, et al.
Publicado: (2019)

Novel recessive PDZD7 biallelic mutations in two Chinese families with non‐syndromic hearing loss
por: Guan, Jing, et al.
Publicado: (2017)

Home-based Early Intervention on Auditory and Speech Development in Mandarin-speaking Deaf Infants and Toddlers with Chronological Aged 7–24 Months
por: Yang, Ying, et al.
Publicado: (2015)

Long-term follow-up of auditory performance and speech perception and effects of age on cochlear implantation in children with pre-lingual deafness
por: Lyu, Jing, et al.
Publicado: (2019)

Comparison between Bilateral and Unilateral Sudden Sensorineural Hearing Loss
por: Bing, Dan, et al.
Publicado: (2018)

Analysis of mutation spectrum of common deafness-causing genes in Hakka newborns in southern China by semiconductor sequencing
por: Zhao, Pingsen, et al.
Publicado: (2018)

A rare cause of primary hypoparathyroidism due to a novel mutation in the GATA3 gene – the Barakat syndrome
por: Wong, SMY, et al.
Publicado: (2013)

Cannot write session to /tmp/vufind_sessions/sess_r266hal84e89kuu2ck3ioha0tj