Cargando…

A novel MPZL2 c.68delC variant is associated with progressive hearing loss in Chinese population and literature review

OBJECTIVE: The aim of this study was to identify genetic etiology in two unrelated Chinese probands with progressive sensorineural hearing loss. METHODS: Two unrelated Chinese families were recruited. Genetic etiology was identified by targeted next‐generation sequencing (NGS) and verified by Sanger...

Descripción completa

Detalles Bibliográficos
Autores principales:	Wang, Zhili, Jiang, Mengda, Wu, Hao, Li, Yun, Chen, Ying
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley & Sons, Inc. 2022
Materias:	Pediatrics and Development
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9194966/ https://www.ncbi.nlm.nih.gov/pubmed/35734045 http://dx.doi.org/10.1002/lio2.829

Ejemplares similares

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

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

Comprehensive medical evaluation of pediatric bilateral sensorineural hearing loss
por: Kılıç, Suat, et al.
Publicado: (2021)

Impact of maternal cytomegalovirus seroconversion on newborn and childhood hearing loss
por: Raynor, Eileen M., et al.
Publicado: (2022)

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)

In vitro assessment of the pathogenicity of the LDLR c.2160delC variant in familial hypercholesterolemia
por: Lin, Shaoyi, et al.
Publicado: (2023)

Hearing‐related quality of life in children and adolescents in rural Alaska
por: Hicks, Kelli L., et al.
Publicado: (2022)

Improvement in quality of life comparing noninvasive versus invasive hearing rehabilitation in children
por: Urík, Milan, et al.
Publicado: (2023)

Community health worker‐based hearing screening on a mobile platform: A scalable protocol piloted in Haiti
por: Jayawardena, Asitha D. L., et al.
Publicado: (2020)

CHEK2 (∗)1100delC Mutation and Risk of Prostate Cancer
por: Hale, Victoria, et al.
Publicado: (2014)

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

CHEK2 1100delC in patients with metachronous cancers of the breast and the colorectum
por: Isinger, Anna, et al.
Publicado: (2006)

CHEK2 1100 delC mutation in Russian ovarian cancer patients
por: Krylova, Nadezhda Yu, et al.
Publicado: (2007)

Genomic profiling of CHEK2*1100delC-mutated breast carcinomas
por: Massink, Maarten P. G., et al.
Publicado: (2015)

Loss of Mpzl3 Function Causes Various Skin Abnormalities and Greatly Reduced Adipose Depots
por: Leiva, Angel G., et al.
Publicado: (2014)

Multiple endocrine neoplasia type 1: a new germline “homozygous” variant (c.201delC) caused by detection errors
por: Zhang, Fan, et al.
Publicado: (2022)

Phenotypic Variability of c.436delC DCAF17 Gene Mutation in Woodhouse-Sakati Syndrome
por: Almeqdadi, Mohammad, et al.
Publicado: (2018)

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)

The CHEK2(*)1100delC mutation has no major contribution in oesophageal carcinogenesis
por: Koppert, L B, et al.
Publicado: (2004)

Genetic modifiers of CHEK2*1100delC associated breast cancer risk
por: Muranen, Taru A., et al.
Publicado: (2016)

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

A frameshift mutation of TMPRSS3 in a Chinese family with non-syndromic hearing loss
por: Liang, Jingwen, et al.
Publicado: (2022)

Clinical utility of testing for PALB2 and CHEK2 c.1100delC in breast and ovarian cancer
por: Woodward, Emma R., et al.
Publicado: (2021)

A search for modifying genetic factors in CHEK2:c.1100delC breast cancer patients
por: Wendt, Camilla, et al.
Publicado: (2021)

A Case of Severe Teratozoospermia and Infertility Due to Homozygous Mutation c.144delC in the AURKC Gene
por: Abbassi, Meriame, et al.
Publicado: (2023)

The CHEK2 1100delC allelic variant is not present in familial and sporadic breast cancer cases from Moroccan population
por: Marouf, Chaymaa, et al.
Publicado: (2015)

Association of the CHEK2 c.1100delC variant, radiotherapy, and systemic treatment with contralateral breast cancer risk and breast cancer-specific survival
por: Morra, Anna, et al.
Publicado: (2023)

Association of the CHEK2 c.1100delC variant, radiotherapy, and systemic treatment with contralateral breast cancer risk and breast cancer‐specific survival
por: Morra, Anna, et al.
Publicado: (2023)

CHEK2 1100delC is prevalent in Swedish early onset familial breast cancer
por: Margolin, Sara, et al.
Publicado: (2007)

A systematic review and meta-analysis of 235delC mutation of GJB2 gene
por: Yao, Jun, et al.
Publicado: (2012)

Frequency of CHEK2*1100delC in New York breast cancer cases and controls
por: Offit, Kenneth, et al.
Publicado: (2003)

A Case of Male Breast Cancer Patient with CHEK2*1100delC Mutation
por: Nguyen, Quan D, et al.
Publicado: (2020)

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

Results of hearing screening of school-age children in Bishkek, Kyrgyzstan
por: Skarżyński, Piotr Henryk, et al.
Publicado: (2020)

Prominent renal complications associated with MMACHC pathogenic variant c.80A > G in Chinese children with cobalamin C deficiency
por: Liu, Xiaoyu, et al.
Publicado: (2023)

Functional analysis of the novel TBX5 c.1333delC mutation resulting in an extended TBX5 protein
por: Böhm, Johann, et al.
Publicado: (2008)

Case Report: Pathogenic MYH9 c.5797delC Mutation in a Patient With Apparent Thrombocytopenia and Nephropathy
por: Ren, Pingping, et al.
Publicado: (2021)

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)

Familial breast cancer and the hCHK2 1100delC mutation: assessing cancer risk
por: Varley, Jenny, et al.
Publicado: (2003)

Sensitivity to systemic therapy for metastatic breast cancer in CHEK2 1100delC mutation carriers
por: Kriege, Mieke, et al.
Publicado: (2015)

Cannot write session to /tmp/vufind_sessions/sess_mk8ctlr2klgu78peeidmm5bp2n