Cargando…

A frameshift mutation of TMPRSS3 in a Chinese family with non-syndromic hearing loss

BACKGROUND: Deafness is the most common sensory defect in humans worldwide. Approximately 50% of cases are attributed to genetic factors, and about 70% are non-syndromic hearing loss (NSHL). OBJECTIVES: To identify clinically relevant gene variants associated with NSHL in a Chinese family using trio...

Descripción completa

Detalles Bibliográficos
Autores principales:	Liang, Jingwen, Yu, Zhuoheng, Wang, Zhangxing, Chen, Jianxia, Liu, Yihuan, Yin, Zhaoqing, Xu, Ruihuan
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2022
Materias:	Pediatrics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9788774/ https://www.ncbi.nlm.nih.gov/pubmed/36568422 http://dx.doi.org/10.3389/fped.2022.1032659

Ejemplares similares

Case Report: Exome Sequencing Identified a Novel Frameshift Mutation of α-Actin 1 in a Chinese Family With Macrothrombocytopenia and Mild Bleeding
por: Luo, Fang-Mei, et al.
Publicado: (2021)

Identification of NF1 Frameshift Variants in Two Chinese Families With Neurofibromatosis Type 1 and Early-Onset Hypertension
por: Lu, Yi-Ting, et al.
Publicado: (2021)

Trajectory of hearing loss in children with unilateral hearing loss
por: Fitzpatrick, Elizabeth M., et al.
Publicado: (2023)

A Novel Homozygous Frameshift Mutation in CCN6 Causing Progressive Pseudorheumatoid Dysplasia (PPRD) in a Consanguineous Yemeni Family
por: Gaboon, Nagwa E. A., et al.
Publicado: (2019)

A novel frameshift mutation of SMPX causes a rare form of X-linked nonsyndromic hearing loss in a Chinese family
por: Niu, Zhijie, et al.
Publicado: (2017)

Novel Mutations and Mutation Combinations of TMPRSS3 Cause Various Phenotypes in One Chinese Family with Autosomal Recessive Hearing Impairment
por: Gao, Xue, et al.
Publicado: (2017)

Analysis of congenital hearing loss after neonatal hearing screening
por: Verstappen, Gill, et al.
Publicado: (2023)

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

Case report: A preterm infant with rubinstein-taybi syndrome and Marmorata telangiectatica harboring a frameshift mutation in the CREBBP gene
por: Yang, Yang, et al.
Publicado: (2023)

Novel Mutations in the TMPRSS3 Gene May Contribute to Taiwanese Patients with Nonsyndromic Hearing Loss
por: Wong, Swee-Hee, et al.
Publicado: (2020)

Audiological characteristics of children with congenital unilateral hearing loss: insights into Age of reliable behavioural audiogram acquisition and change of hearing loss
por: Zhang, Vicky W., et al.
Publicado: (2023)

Characterisation of the treatment provided for children with unilateral hearing loss
por: Patel, Roshni, et al.
Publicado: (2023)

Clinical features and prognostic factors of children with profound sudden sensorineural hearing loss
por: Xiao, Ling, et al.
Publicado: (2022)

A Novel Frameshift Mutation of SLC26A4 in a Korean Family With Nonsyndromic Hearing Loss and Enlarged Vestibular Aqueduct
por: Sagong, Borum, et al.
Publicado: (2017)

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)

Genetic and Non-genetic Workup for Pediatric Congenital Hearing Loss
por: Belcher, Ryan, et al.
Publicado: (2021)

Subjective Fatigue in Children With Unaided and Aided Unilateral Hearing Loss
por: Bakkum, Kim H. E., et al.
Publicado: (2022)

Emotional behavioral outcomes of children with unilateral and mild hearing loss
por: Ong, Jun Jean, et al.
Publicado: (2023)

Mutation analysis of the GSDME gene in a Chinese family with non-syndromic hearing loss
por: Lei, Peiliang, et al.
Publicado: (2022)

A Novel Homozygous Frameshift Variant in DYM Causing Dyggve-Melchior-Clausen Syndrome in Pakistani Patients
por: Gaboon, Nagwa E. A., et al.
Publicado: (2020)

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

Pathogenicity and Long-Term Outcomes of Liddle Syndrome Caused by a Nonsense Mutation of SCNN1G in a Chinese Family
por: Zhang, Di, et al.
Publicado: (2022)

Deciphering an isolated lung phenotype of NKX2-1 frameshift pathogenic variant
por: Delestrain, Céline, et al.
Publicado: (2023)

Identification of a complex genomic rearrangement in TMPRSS3 by massively parallel sequencing in Chinese cases with prelingual hearing loss
por: Li, Xinlei, et al.
Publicado: (2019)

THU149 A Novel Frameshift Mutation (p.H485fs) Of The Ldl Receptor Gene
por: Chang, Seong Hwan, et al.
Publicado: (2023)

Corrigendum: Pathogenicity and Long-Term Outcomes of Liddle Syndrome Caused by a Nonsense Mutation of SCNN1G in a Chinese Family
por: Zhang, Di, et al.
Publicado: (2022)

Concurrent newborn hearing and genetic screening of common hearing loss variants with bloodspot-based targeted next generation sequencing in Jiangxi province
por: Luo, Haiyan, et al.
Publicado: (2022)

A Novel Mutation in ATRX Causes Alpha-Thalassemia X-Linked Intellectual Disability Syndrome in a Han Chinese Family
por: Wu, Shaomin, et al.
Publicado: (2022)

Case Report: Novel TRPM6 Mutations Cause Hereditary Hypomagnesemia With Secondary Hypocalcemia in a Chinese Family and a Literature Review
por: Han, Yiran, et al.
Publicado: (2022)

Identification of Two Novel Compound Heterozygous EIF2AK3 Mutations Underlying Wolcott–Rallison Syndrome in a Chinese Family
por: Zhao, Na, et al.
Publicado: (2021)

Case Report: The Monogenic Familial Steroid-Resistant Nephrotic Syndrome Caused by a Novel Missense Mutation of NPHS2 Gene A593C in a Chinese Family
por: Bai, Ling, et al.
Publicado: (2021)

Insights into the pathophysiology of DFNA44 hearing loss associated with CCDC50 frameshift variants
por: Lachgar-Ruiz, María, et al.
Publicado: (2023)

A Novel Homozygous VPS13B Splice-Site Mutation Causing the Skipping of Exon 38 in a Chinese Family With Cohen Syndrome
por: Li, Liangshan, et al.
Publicado: (2021)

Case Report and Literature Review: Homozygous DNAJC3 Mutation in a Saudi Family Causing Maturity Onset Diabetes of the Young (MODY), Hypothyroidism, Short Stature, Neurodegeneration, and Hearing Loss
por: Alwatban, Saud Mohammed, et al.
Publicado: (2021)

Two novel heterozygote mutations of ATM in a Chinese family with dystonia-dominant ataxia telangiectasia and literature review
por: Liu, Zhi-Jun, et al.
Publicado: (2023)

Case report: Cochlear implantation was effective for progressive bilateral severe hearing loss associated with Kawasaki disease
por: Murakami, Daichi, et al.
Publicado: (2023)

Case report: A novel mutation in TRPS1 identified in a Chinese family with tricho-rhino-phalangeal syndrome I: A therapeutic challenge
por: Huang, Qi, et al.
Publicado: (2022)

Case Report: m.13513 G>A Mutation in a Chinese Patient With Both Leigh Syndrome and Wolff-Parkinson-White Syndrome
por: Liang, Jian-Min, et al.
Publicado: (2021)

Multiple congenital anomalies and adverse developmental outcomes are associated with neonatal intensive care admission and unilateral hearing loss
por: Horrocks, Lucy M., et al.
Publicado: (2023)

Early cochlear implantation in prelingual profound hearing loss in Italy, analyzed by means of a social media survey
por: Orzan, Eva, et al.
Publicado: (2023)

Cannot write session to /tmp/vufind_sessions/sess_sulrji241kjjcnl5j2kmafmkin