Cargando…

Novel Compound Heterozygous Mutations in the SYNE1 Gene in a Taiwanese Family: A Case Report and Literature Review

Mutations in the synaptic nuclear envelope protein 1 (SYNE1) gene are associated with substantial clinical heterogeneity. Here, we report the first case of SYNE1 ataxia in Taiwan due to two novel truncating mutations. Our patient, a 53-year-old female, exhibited pure cerebellar ataxia with c.1922del...

Descripción completa

Detalles Bibliográficos
Autores principales:	Kuo, Chia-Yan, Yu, Pei Shan, Chao, Chih-Ying, Wang, Chun-Chieh, Fan, Wen-Lang, Wu, Yih-Ru
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	The Korean Movement Disorder Society 2023
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10236026/ https://www.ncbi.nlm.nih.gov/pubmed/37096302 http://dx.doi.org/10.14802/jmd.22105

Ejemplares similares

Case Report: Late-Onset Autosomal Recessive Cerebellar Ataxia Associated With SYNE1 Mutation in a Chinese Family
por: Qian, Nannan, et al.
Publicado: (2022)

Association of AXIN1 With Parkinson’s Disease in a Taiwanese Population
por: Fang, Hwa-Shin, et al.
Publicado: (2022)

UQCRC1 variants in early-onset and familial Parkinson's disease in a Taiwanese cohort
por: Liao, Ting-Wei, et al.
Publicado: (2022)

Rare Compound Heterozygous Frameshift Mutations in ALMS1 Gene Identified Through Exome Sequencing in a Taiwanese Patient With Alström Syndrome
por: Tsai, Meng-Che, et al.
Publicado: (2018)

Identifying SYNE1 Ataxia With Novel Mutations in a Chinese Population
por: Peng, Yun, et al.
Publicado: (2018)

High frequency of SPG4 in Taiwanese families with autosomal dominant hereditary spastic paraplegia
por: Lan, Min-Yu, et al.
Publicado: (2014)

A novel SYNE1 gene mutation in a Chinese family of Emery-Dreifuss muscular dystrophy-like
por: Chen, Zuzhi, et al.
Publicado: (2017)

Heterogeneity in clinical features and disease severity in ataxia-associated SYNE1 mutations
por: Wiethoff, Sarah, et al.
Publicado: (2016)

Young and early‐onset dilated cardiomyopathy with malignant ventricular arrhythmia and sudden cardiac death induced by the heterozygous LDB3, MYH6, and SYNE1 missense mutations
por: Zhao, Ting, et al.
Publicado: (2021)

A novel frameshift mutation of SYNE1 in a Japanese family with autosomal recessive cerebellar ataxia type 8
por: Yoshinaga, Tsuneaki, et al.
Publicado: (2017)

POLG R964C and GBA L444P mutations in familial Parkinson's disease: Case report and literature review
por: Hsieh, Pei‐Chen, et al.
Publicado: (2019)

SYNE1 Mutation Is Associated with Increased Tumor Mutation Burden and Immune Cell Infiltration in Ovarian Cancer
por: Harbin, Laura M., et al.
Publicado: (2023)

Novel Compound Heterozygous Mutations in Two Families With Bernard–Soulier Syndrome
por: Minkov, Milen, et al.
Publicado: (2021)

Genetic Variants of LRRK2 in Taiwanese Parkinson’s Disease
por: Wu, Yih-Ru, et al.
Publicado: (2013)

EGFR and SYNE2 are associated with p21 expression and SYNE2 variants predict post-operative clinical outcomes in HBV-related hepatocellular carcinoma
por: Han, Chuangye, et al.
Publicado: (2016)

Novel Compound Heterozygous CBS Mutations Cause Homocystinuria in a Han Chinese Family
por: Gong, Bo, et al.
Publicado: (2015)

Cross-Sectional Area Reference Values for Sonography of Peripheral Nerves in Taiwanese Adults
por: Hsieh, Pei-Chen, et al.
Publicado: (2021)

Novel MEI1 compound heterozygous mutation in a sporadic family associated with spermatogenetic failure
por: Chen, Jie, et al.
Publicado: (2022)

Pericentrin interacts with KASH domain-containing protein Syne-2
por: Falk, N, et al.
Publicado: (2015)

Association of SYNE1 locus with bipolar disorder in Chinese population
por: Li, Wenqiang, et al.
Publicado: (2019)

Compound heterozygous mutations in FBN1 in a large family with Marfan syndrome
por: McInerney‐Leo, Aideen M., et al.
Publicado: (2020)

Genetic Analysis of EGLN1 C127S Variant in Taiwanese Parkinson's Disease
por: Chiang, Han-Lin, et al.
Publicado: (2020)

Synaptic Nuclear Envelope Protein 1 (SYNE 1) Ataxia with Amyotrophic Lateral Sclerosis-like Presentation: A Novel Synaptic Nuclear Envelope Protein 1 (SYNE 1) Gene Deletion Mutation from India
por: Nadaf, Swaleha Nurulla, et al.
Publicado: (2020)

Air Pollution Is Associated with Poor Cognitive Function in Taiwanese Adults
por: Chen, Meng-Chieh, et al.
Publicado: (2021)

SLC1A2 Variant Is Associated with Essential Tremor in Taiwanese Population
por: Yu, Shao-wen, et al.
Publicado: (2013)

Mutation survey in Taiwanese patients with Stickler syndrome
por: Huang, Faye, et al.
Publicado: (2022)

Case Report: A novel desmoplakin mutation in a taiwanese woman with familial dilated cardiomyopathy that necessitated heart transplantation
por: Chang, Yi-Han, et al.
Publicado: (2022)

Metabolic syndrome in a Taiwanese metropolitan adult population
por: Lin, Cheng-Chieh, et al.
Publicado: (2007)

Rare VPS35 A320V Variant in Taiwanese Parkinson’s Disease Indicates Disrupted CI-MPR Sorting and Impaired Mitochondrial Morphology
por: Wu, Yih-Ru, et al.
Publicado: (2020)

Novel Compound Heterozygous Nonsense PRX Mutations in a Korean Dejerine-Sottas Neuropathy Family
por: Choi, Ye Ji, et al.
Publicado: (2015)

Identification of a Mutation in the Novel Compound Heterozygous CFTR in a Chinese Family with Cystic Fibrosis
por: Shao, Hongxia, et al.
Publicado: (2020)

Novel compound heterozygous mutations of CLDN16 in a patient with familial hypomagnesemia with hypercalciuria and nephrocalcinosis
por: García‐Castaño, Alejandro, et al.
Publicado: (2020)

Novel compound heterozygous mutations in MCPH1 gene causes primary microcephaly in Saudi family
por: Naseer, Muhammad I., et al.
Publicado: (2018)

Novel Compound Heterozygous Mutations in CTSC Gene in a Chinese Family with Papillon-Lefevre Syndrome
por: Wang, Yuan, et al.
Publicado: (2021)

Novel compound heterozygous CCDC40 mutations in a familial case of primary ciliary dyskinesia
por: Zhao, Liqing, et al.
Publicado: (2022)

The effect of the preoperational psychoeducation program for Taiwanese breast cancer patients: A three-month follow-up study
por: Hung, Jui-Ko, et al.
Publicado: (2021)

SYNE1‐QK1 SNPs, G × G and G × E interactions on the risk of hyperlipidaemia
por: Zheng, Peng‐Fei, et al.
Publicado: (2020)

Biallelic SYNE2 Missense Mutations Leading to Nesprin-2 Giant Hypo-Expression Are Associated with Intellectual Disability and Autism
por: Young, Natalie, et al.
Publicado: (2021)

A New Compound Heterozygous Mutation Of BSCL2 In A Chinese Zhuang Ethnic Family With Congenital Generalized Lipodystrophy
por: Qin, Yuan-yuan, et al.
Publicado: (2019)

RUNX2 mutations in Taiwanese patients with cleidocranial dysplasia
por: Lin, Wei-De, et al.
Publicado: (2011)

Cannot write session to /tmp/vufind_sessions/sess_7nt3uvgcolbotmgces2b1bmvdr