NBAS disease: 14 new patients, a recurrent mutation, and genotype–phenotype correlation among 24 Chinese patients

2020 ◽  
Vol 50 (11) ◽  
pp. 1306-1315
Author(s):  
Zhong Die Li ◽  
Kuerbanjiang Abuduxikuer ◽  
Jing Zhang ◽  
Ye Yang ◽  
Yi‐Ling Qiu ◽  
...  
Keyword(s):  
Recurrent Mutation ◽  
Chinese Patients ◽  
Phenotype Correlation ◽  
Genotype Phenotype Correlation

Genotype–phenotype correlation in Becker muscular dystrophy in Chinese patients

2018 ◽  
Vol 63 (10) ◽  
pp. 1041-1048 ◽  
Author(s):  
Ruiyi Yuan ◽  
Junfei Yi ◽  
Zhiying Xie ◽  
Yimeng Zheng ◽  
Miao Han ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Becker Muscular Dystrophy ◽  
Chinese Patients ◽  
Phenotype Correlation ◽  
Genotype Phenotype Correlation

scholarly journals Characterization of genotype–phenotype correlation with MORC2 mutated Axonal Charcot–Marie–Tooth disease in a cohort of Chinese patients

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Xiaohui Duan ◽  
Xiaoxuan Liu ◽  
Guochun Wang ◽  
Weihong Gu ◽  
Min Xu ◽  
...  
Keyword(s):  
Chinese Population ◽  
Sanger Sequencing ◽  
Hot Spot ◽  
Chinese Patients ◽  
De Novo Mutation ◽  
Common Mutation ◽  
Motor Neuropathy ◽  
Phenotype Correlation ◽  
Charcot Marie Tooth ◽  
Genotype Phenotype Correlation

Abstract Background Charcot–Marie–Tooth (CMT) disease is an exciting field of study, with a growing number of causal genes and an expanding phenotypic spectrum. The microrchidia family CW-type zinc finger 2 gene (MORC2) was newly identified as a causative gene of CMT2Z in 2016. We aimed to describe the phenotypic-genetic spectrum of MORC2-related diseases in the Chinese population. Methods With the use of Sanger sequencing and Next Generation Sequencing (NGS) technologies, we screened a cohort of 284 unrelated Chinese CMT2 families. Pathogenicity assessments of MORC2 variants were interpreted according to the ACMG guidelines. Potential pathogenic variants were confirmed by Sanger sequencing. Results We identified 4 different heterozygous MORC2 mutations in four unrelated families, accounting for 1.4% (4/284). A novel mutation c.1397A>G p. D466G was detected in family 1 and all affected patients presented with later onset axonal CMT with hyperCKemia. The patient in family 2 showed a spinal muscular atrophy (SMA)-like disease with cerebellar hypoplasia and mental retardation, with a hot spot de novo mutation c.260C>T p. S87L. The twin sisters in family 3 were identified as having the most common mutation c.754C>T p. R252W and suffered from axonal motor neuropathy with high variability in disease severity and duration. The patient in family 4 developed an early onset axonal motor and sensory neuropathy, with a reported mutation c.1220G>A p.C407Y. All identified mutations associated with MORC2-related neuropathies are localized in the N-terminal ATPase module. Conclusions Our study confirmed that MORC2-related neuropathies exist in the Chinese population at a relatively high mutation rate. We revealed a complex genotype–phenotype correlation with MORC2 mutations. This report adds a new piece to the puzzle of the genetics of CMT and contributes to a better understanding of the disease mechanisms.

Spectrum of ATP7B mutations and genotype-phenotype correlation in large-scale Chinese patients with Wilson Disease

2017 ◽  
Vol 92 (1) ◽  
pp. 69-79 ◽  
Author(s):  
N. Cheng ◽  
H. Wang ◽  
W. Wu ◽  
R. Yang ◽  
L. Liu ◽  
...  
Keyword(s):  
Wilson Disease ◽  
Large Scale ◽  
Chinese Patients ◽  
Phenotype Correlation ◽  
Genotype Phenotype Correlation

scholarly journals Mutation analysis of the ATP7B gene and genotype-phenotype correlation in Chinese patients with Wilson disease

2021 ◽  
Author(s):  
Mingming Li ◽  
Jing Ma ◽  
Wenlong Wang ◽  
Xu Yang ◽  
Kaizhong Luo
Keyword(s):  
Wilson Disease ◽  
Large Scale ◽  
Allelic Frequency ◽  
Chinese Patients ◽  
Missense Mutations ◽  
Onset Age ◽  
Phenotype Correlation ◽  
Novel Mutations ◽  
Nonsense Mutations ◽  
Genotype Phenotype Correlation

Abstract AIM To discover the novel ATP7B mutations in 103 southern Chinese patients with Wilson disease (WD), and to determine the spectrum and frequency of mutations in the ATP7B gene and genotype-phenotype correlation in a large-scale sample of Chinese WD patients. Methods One hundred three WD patients from 101 unrelated families in southern China were enrolled in this study. Genomic DNA was extracted from the peripheral blood. Direct sequencing of all 21 exons within ATP7B was performed. Subsequently, an extensive study of the overall spectrum and frequency of ATP7B mutations and genotype-phenotype correlation was performed in all Chinese patients eligible from the literature, combined with the current southern group.Results In 103 patients with WD, we identified 48 different mutations (42 missense mutations, 4 nonsense mutations and 2 frameshifts). Of these, 7 mutations had not been previously reported: 1510_1511insA, 2075T>C (Leu692Pro), 2233C>A (Leu745Met), 3209C>G (Pro1070Arg),3677C>T (Thr1226Ile), 3793G>T (Val1265Leu) and 3824T>C (Leu1275Ser). The 2333G>T (Arg778 Leu) at exon 8, was the most common mutation with an allelic frequency of 18.8%, followed by 2975C>T (Pro992Leu) at exon 13, with an allelic frequency of 13.4%. In the comprehensive study, 233 distinct mutations were identified, including 154 missense mutations, 23 nonsense mutations and 56 frameshifts. Eighty-five variants were identified as novel mutations. The 2333G>T (Arg778 Leu) and 2975C>T (Pro992Leu) were the most common mutations, with allelic frequencies of 28.6% and 13.0%, respectively. Exons 8, 12, 13, 16 and 18 were recognised as hot spot exons. Phenotype-genotype correlation analysis suggested that 2333G>T (Arg778 Leu) was significantly associated with lower levels of serum ceruloplasmin (P=0.034). 2975C>T (Pro992Leu) was correlated with earlier age of disease onset (P=0.002). Additionally, we found that the 3809A>G (Asn1270Ser) mutation significantly indicated younger onset age (P=0.012), and the 3884C>T (Ala1295Val) mutation at exon 18 was significantly associated with hepatic presentation (P=0.048). Moreover, the patients with mixed presentation displayed the initial WD features at an older onset age than the groups with either liver disease or neurological presentation (P=0.039, P=0.015, respectively). No significant difference was observed in the presence of KF rings among the three groups with different clinical manifestations. Conclusion In this study, we identified seven novel mutations in 103 WD patients from the southern part of China, which could enrich the previously established mutational spectrum of the ATP7B gene. Moreover, we tapped into a large-scale study of a Chinese WD cohort to characterise the overall phenotypic and genotypic spectra and assess the association between genotype and phenotype, which enhances the current knowledge about the population genetics of WD in China.

scholarly journals Genotype-Phenotype Correlation in Chinese Patients with Spinal and Bulbar Muscular Atrophy

PLoS ONE ◽  
2015 ◽  
Vol 10 (3) ◽  
pp. e0122279 ◽  
Author(s):  
Wang Ni ◽  
Sheng Chen ◽  
Kai Qiao ◽  
Ning Wang ◽  
Zhi-Ying Wu
Keyword(s):  
Muscular Atrophy ◽  
Chinese Patients ◽  
Phenotype Correlation ◽  
Genotype Phenotype Correlation
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