scholarly journals Novel compound heterozygous mutations in SLC26A4 gene in a Chinese family with enlarged vestibular aqueduct

2018 ◽  
Vol 12 (5) ◽  
pp. 502-506 ◽  
Author(s):  
Xuelei Zhao ◽  
Xiaohua Cheng ◽  
Lihui Huang ◽  
Xianlei Wang ◽  
Cheng Wen ◽  
...  
Keyword(s):  
Chinese Family ◽  
Compound Heterozygous ◽  
Enlarged Vestibular Aqueduct ◽  
Vestibular Aqueduct ◽  
Compound Heterozygous Mutations ◽  
I Gene

Atrichia with Papular Lesions in a Chinese Family Caused by Novel Compound Heterozygous Mutations and Literature Review

Dermatology ◽  
2013 ◽  
Vol 226 (1) ◽  
pp. 68-74 ◽  
Author(s):  
Shuang Wang ◽  
Chen Tu ◽  
Yiguo Feng ◽  
Xiaopeng Wang ◽  
Dingwei Zhang ◽  
...  
Keyword(s):  
Literature Review ◽  
Chinese Family ◽  
Compound Heterozygous ◽  
Compound Heterozygous Mutations

scholarly journals Novel Compound Heterozygous Mutations in TTI2 Cause Syndromic Intellectual Disability in a Chinese Family

2019 ◽  
Vol 10 ◽  
Author(s):  
Rongrong Wang ◽  
Shirui Han ◽  
Hongyan Liu ◽  
Amjad Khan ◽  
Habulieti Xiaerbati ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Chinese Family ◽  
Compound Heterozygous ◽  
Compound Heterozygous Mutations

scholarly journals Novel SPG 11 Mutations in Hereditary Spastic Paraplegia With Thin Corpus Callosum in a Chinese Family

2016 ◽  
Vol 43 (6) ◽  
pp. 833-840
Author(s):  
Xiaojie Tian ◽  
Min Wang ◽  
Kaiyuan Zhang ◽  
Xinqing Zhang
Keyword(s):  
Hereditary Spastic Paraplegia ◽  
Gene Mutations ◽  
Protein Product ◽  
Exome Capture ◽  
Chinese Family ◽  
Compound Heterozygous ◽  
Spastic Paraplegia ◽  
Reading Frame ◽  
Physical Examinations ◽  
Compound Heterozygous Mutations

AbstractBackground: Hereditary spastic paraplegia (HSP) is a neurodegenerative disease that is characterized by progressive weakness and spasticity of the lower extremities; HSP can present as complicated forms with additional neurological signs. More than 70 disease loci have been described with different modes of inheritance. Methods: In this study, nine subjects from a Chinese family that included two individuals affected by HSP were examined through detailed clinical evaluations, physical examinations, and genetic tests. Targeted exome capture technology was used to identify gene mutations. Results: Two novel compound heterozygous mutations in the SPG 11 gene were identified, c.4001_4002insATAAC and c.4057C>G. The c.4001_4002insATAAC mutation leads to a reading frame shift during transcription, resulting in premature termination of the protein product. The missense mutation c.4057C>G (p.H1353D) is located in a highly conserved domain and is predicted to be a damaging substitution. Conclusions: Based on the results described here, we propose that these novel compound heterozygous mutations in SPG 11 are the genetic cause of autosomal recessive HSP in this Chinese family.

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