scholarly journals The identification of a novel splicing mutation in the DMD gene of a Chinese family

2021 ◽  
Vol 9 (12) ◽  
Author(s):  
Wanlu Liu ◽  
Xinwei Shi ◽  
Yuqi Li ◽  
Fuyuan Qiao ◽  
Yuanyuan Wu
Keyword(s):  
Chinese Family ◽  
Splicing Mutation ◽  
Dmd Gene

scholarly journals The identification of a novel splicing mutation in the DMD gene of a Chinese family

2021 ◽  
Author(s):  
Wanlu Liu ◽  
Xinwei Shi ◽  
Yuqi Li ◽  
Fuyuan Qiao ◽  
Yuanyuan Wu
Keyword(s):  
Duchenne Muscular Dystrophy ◽  
Pathogenic Mutation ◽  
Chinese Family ◽  
Gene Variants ◽  
Splicing Mutation ◽  
Aberrant Splicing ◽  
Disease Phenotypes ◽  
Dmd Gene ◽  
Minigene Expression

The Duchenne Muscular Dystrophy (DMD) gene variants are associated with the disease phenotypes. The pathogenic mutation, c.2293-1G>C, was detected in DMD gene in the proband and the fetus, which has not been reported in the literature.The minigene expression in vitro confirmed that c.2293-1G>C is responsible of aberrant splicing.

scholarly journals A novel phenotype with splicing mutation identified in a Chinese family with desminopathy

2019 ◽  
Vol 132 (2) ◽  
pp. 127-134 ◽  
Author(s):  
Peng Fan ◽  
Chao-Xia Lu ◽  
Xue-Qi Dong ◽  
Di Zhu ◽  
Kun-Qi Yang ◽  
...  
Keyword(s):  
Chinese Family ◽  
Splicing Mutation

A novel splicing mutation of PTCH1 in a Chinese family with nevoid basal cell carcinoma syndrome

2019 ◽  
Vol 52 (4) ◽  
pp. 235-237
Author(s):  
Junfeng Zhou ◽  
Guiying Zhang ◽  
Meng Shi ◽  
Zhisheng Liu ◽  
Manyi Xiao ◽  
...  
Keyword(s):  
Basal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Basal Cell ◽  
Chinese Family ◽  
Splicing Mutation

A Novel Splicing Mutation Identified in a Chinese Family with X-linked Alport Syndrome Using Targeted Next-Generation Sequencing

2016 ◽  
Vol 20 (4) ◽  
pp. 203-207
Author(s):  
Chen Chen ◽  
Chao-Xia Lu ◽  
Qiong Wang ◽  
Li-Hua Cao ◽  
Yang Luo ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Alport Syndrome ◽  
Chinese Family ◽  
Splicing Mutation ◽  
Next Generation ◽  
Targeted Next Generation Sequencing ◽  
Generation Sequencing

A novel splicing mutation in the PROS1 gene causes hereditary protein S deficiency in a Chinese family with thrombotic disease

2020 ◽  
Vol 189 ◽  
pp. 93-95
Author(s):  
Ya Tan ◽  
Kai Yang ◽  
Jing Wang ◽  
Xinping Sun ◽  
Ruirui Li ◽  
...  
Keyword(s):  
Protein S ◽  
Chinese Family ◽  
Splicing Mutation ◽  
Protein S Deficiency ◽  
Thrombotic Disease ◽  
S Deficiency

Identification of a novel splicing mutation in the growth hormone (GH)-releasing hormone receptor gene in a Chinese family with pituitary dwarfism

2009 ◽  
Vol 313 (1-2) ◽  
pp. 50-56 ◽  
Author(s):  
Qi Wang ◽  
Ying Diao ◽  
Zhenping Xu ◽  
Xiaohui Li ◽  
Xiao Ping Luo ◽  
...  
Keyword(s):  
Growth Hormone ◽  
Hormone Receptor ◽  
Receptor Gene ◽  
Chinese Family ◽  
Splicing Mutation ◽  
Pituitary Dwarfism ◽  
Releasing Hormone ◽  
Hormone Receptor Gene

scholarly journals A Novel Splicing Mutation ofKITResults in Piebaldism and Auburn Hair Color in a Chinese Family

2013 ◽  
Vol 2013 ◽  
pp. 1-6 ◽  
Author(s):  
Yong-jia Yang ◽  
Rui Zhao ◽  
Xin-yu He ◽  
Li-ping Li ◽  
Ke-wei Wang ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Mutation Screening ◽  
Chinese Family ◽  
Hair Color ◽  
Splicing Mutation ◽  
Autosomal Dominant Disorder ◽  
Kit Mutation ◽  
Key Characteristics ◽  
Color Variant

Piebaldism is a rare autosomal dominant disorder of melanocyte development, which is mostly caused byKITgene. The key characteristics of piebaldism include localized poliosis, congenital leukoderma, and other variable manifestations. The previous study has illustrated that the homogeneousMC1R(a gene which is associated with the hair color) variant (p.I120T) coordinating withKITmutation may lead to auburn hair color and piebaldism. In this study, we have investigated a Chinese family with piebaldism and auburn hair color; the mutation screening ofKITandMC1Rgenes identified that only a splicing mutation (c. 2484+1G>A) ofKITgene cosegregated with the auburn hair color and piebaldism. The data of this study and others suggests that the KIT mutation may causes of the auburn hair color in the piebaldism patients.

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