Cargando…

Targeted next-generation sequencing identified a novel variant of SOX10 in a Chinese family with Waardenburg syndrome type 2

OBJECTIVE: Waardenburg syndrome type 2 (WS2) is an autosomal dominant syndrome, characterized by bright blue eyes, hearing loss, and depigmented patches of hair and skin. It exhibits high phenotypic and genetic heterogeneity. We explored the molecular etiology in a Chinese family with WS2. METHODS:...

Descripción completa

Detalles Bibliográficos
Autores principales:	Liu, Xiao-Wen, Wang, Su-Yang, Xing, Zhan-Kui, Zhu, Yi-Ming, Ding, Wen-Juan, Duan, Lei, Cui, Xiao, Xu, Bai-Cheng, Li, Shu-Juan, Guo, Yu-Fen
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	SAGE Publications 2020
Materias:	Case Series
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7708717/ https://www.ncbi.nlm.nih.gov/pubmed/33251892 http://dx.doi.org/10.1177/0300060520967540

Ejemplares similares

Identification of nine novel variants across PAX3 , SOX10 , EDNRB , and MITF genes in Waardenburg syndrome with next‐generation sequencing
por: Lee, Chen‐Yu, et al.
Publicado: (2022)

A Novel Spontaneous Mutation of the SOX10 Gene Associated with Waardenburg Syndrome Type II
por: Chen, Sen, et al.
Publicado: (2020)

A novel variant of the SOX10 gene associated with Waardenburg syndrome type IV
por: Wang, Yanan, et al.
Publicado: (2023)

Waardenburg Syndrome Type IV De Novo SOX10 Variant Causing Chronic Intestinal Pseudo-Obstruction
por: Hogan, Anthony R., et al.
Publicado: (2019)

Waardenburg syndrome type II in a Chinese pedigree caused by frameshift mutation in the SOX10 gene
por: Li, Li, et al.
Publicado: (2021)

Screening of MITF and SOX10 Regulatory Regions in Waardenburg Syndrome Type 2
por: Baral, Viviane, et al.
Publicado: (2012)

Identification of six novel variants in Waardenburg syndrome type II by next‐generation sequencing
por: Ren, Shumin, et al.
Publicado: (2020)

A De Novo Mutation in SOX10 in a Chinese Boy with Waardenburg Syndrome Type 2
por: Guo, Min, et al.
Publicado: (2023)

Novel SOX10 Mutations in Waardenburg Syndrome: Functional Characterization and Genotype-Phenotype Analysis
por: Thongpradit, Supranee, et al.
Publicado: (2020)

Case report: Heterogeneous mutations of SOX10 gene in a Chinese infant with Waardenburg syndrome type 4C
por: Zhang, Suli, et al.
Publicado: (2022)

A novel SOX10 variant in a Japanese girl with Waardenburg syndrome type 4C and Kallmann syndrome
por: Hamada, Junpei, et al.
Publicado: (2020)

A de novo deletion mutation in SOX10 in a Chinese family with Waardenburg syndrome type 4
por: Wang, Xiong, et al.
Publicado: (2017)

High Genetic Heterogeneity in Chinese Patients With Waardenburg Syndrome Revealed by Next-Generation Sequencing
por: Zhang, Sen, et al.
Publicado: (2021)

Phenotypic continuum between Waardenburg syndrome and Idiopathic Hypogonadotropic Hypogonadism in humans with SOX10 mutations
por: Rojas, Rebecca A., et al.
Publicado: (2021)

A novel SOX10 nonsense mutation in a patient with Kallmann syndrome and Waardenburg syndrome
por: Wakabayashi, Tetsuji, et al.
Publicado: (2021)

Two novel mutations of PAX3 and SOX10 were characterized as genetic causes of Waardenburg Syndrome
por: Yu, Yongbo, et al.
Publicado: (2020)

Kallmann Syndrome Due to Heterozygous Mutation in SOX10 Coexisting With Waardenburg Syndrome Type II: Case Report and Review of Literature
por: Chen, Kan, et al.
Publicado: (2021)

A Model of Waardenburg Syndrome Using Patient-Derived iPSCs With a SOX10 Mutation Displays Compromised Maturation and Function of the Neural Crest That Involves Inner Ear Development
por: Wen, Jie, et al.
Publicado: (2021)

Waardenburg syndrome
por: Ramakrishnan, Iyer Lavanya, et al.
Publicado: (2023)

New Genotypes and Phenotypes in Patients with 3 Subtypes of Waardenburg Syndrome Identified by Diagnostic Next-Generation Sequencing
por: Li, Wu, et al.
Publicado: (2019)

PAX3 mutations and clinical characteristics in Chinese patients with Waardenburg syndrome type 1
por: Wang, Juan, et al.
Publicado: (2010)

Shah-Waardenburg Syndrome
por: Mahmoudi, Abdelhalim, et al.
Publicado: (2013)

Syndrome de Waardenburg
por: Madiha, Mahfoudhi, et al.
Publicado: (2015)

A case report of reversible generalized seizures in a patient with Waardenburg syndrome associated with a novel nonsense mutation in the penultimate exon of SOX10
por: Suzuki, Noriomi, et al.
Publicado: (2018)

Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family
por: Chen, Dezhong, et al.
Publicado: (2017)

Waardenburg Syndrome Expression and Penetrance
por: Shelby, Myeshia V.
Publicado: (2017)

Choroidal thickness in Waardenburg syndrome
por: Rishi, Pukhraj, et al.
Publicado: (2019)

Waardenburg Syndrome Type 1
por: Agrawal, Rakshit, 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)

Next-generation sequencing: insights to advance clinical investigations of the microbiome
por: Wensel, Caroline R., et al.
Publicado: (2022)

Next-generation antigen-presenting cell immune therapeutics for gliomas
por: Lee-Chang, Catalina, et al.
Publicado: (2023)

Clinical Analysis of Metagenomic Next-Generation Sequencing Confirmed Chlamydia psittaci Pneumonia: A Case Series and Literature Review
por: Teng, Xin-Qi, et al.
Publicado: (2021)

Lessons learned: next-generation sequencing applied to undiagnosed genetic diseases
por: Schuler, Bryce A., et al.
Publicado: (2022)

Identification of a novel heterozygous mutation in the MITF gene in an Iranian family with Waardenburg syndrome type II using next‐generation sequencing
por: Nasirshalal, Mahzad, et al.
Publicado: (2021)

Next-generation sequencing of cerebrospinal fluid for diagnosis of atypical herpes simplex encephalitis
por: Kang, Zhilei, et al.
Publicado: (2021)

Next-generation sequencing: unraveling genetic mechanisms that shape cancer immunotherapy efficacy
por: Halima, Ahmed, et al.
Publicado: (2022)

Waardenburg syndrome: A rare case
por: Rawlani, Shivlal M., et al.
Publicado: (2018)

When color matters: Waardenburg syndrome
por: Dave, Tarjani V, et al.
Publicado: (2019)

MITF p.Arg217Thr Variant Identified in a Han Chinese Family with Tietz/Waardenburg Syndrome
por: Yu, Rong, et al.
Publicado: (2021)

Case Report: A Novel Gross Deletion in PAX3 (10.26 kb) Identified in a Chinese Family With Waardenburg Syndrome by Third-Generation Sequencing
por: Jin, Jie-Yuan, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_fv35m46m9432jo17lmqfm6ot99