Identification of two novel missense mutations in the KAL1 gene in Han Chinese subjects with Kallmann Syndrome

2011 ◽  
Vol 34 (1) ◽  
pp. 53-59 ◽  
Author(s):  
T. S. Jap ◽  
C. Y. Chiu ◽  
J. F. Lirng ◽  
G. S. Won
Keyword(s):  
Kallmann Syndrome ◽  
Han Chinese ◽  
Missense Mutations ◽  
Kal1 Gene ◽  
Chinese Subjects

A fertile male patient with Kallmann syndrome and two missense mutations in the KAL1 gene

2011 ◽  
Vol 95 (5) ◽  
pp. 1789.e3-1789.e6 ◽  
Author(s):  
Shilin Zhang ◽  
Tao Wang ◽  
Jun Yang ◽  
Zhuo Liu ◽  
Shaogang Wang ◽  
...  
Keyword(s):  
Male Patient ◽  
Kallmann Syndrome ◽  
Missense Mutations ◽  
Kal1 Gene ◽  
Fertile Male

scholarly journals Mutation analyses in pedigrees and sporadic cases of ethnic Han Chinese Kallmann syndrome patients

2015 ◽  
Vol 240 (11) ◽  
pp. 1480-1489 ◽  
Author(s):  
Wei-Jun Gu ◽  
Qian Zhang ◽  
Ying-Qian Wang ◽  
Guo-Qing Yang ◽  
Tian-Pei Hong ◽  
...  
Keyword(s):  
Kallmann Syndrome ◽  
Han Chinese ◽  
Sporadic Cases ◽  
Mutation Analyses

scholarly journals Mitochondrial tRNA mutations in Chinese children with tic disorders

2020 ◽  
Vol 40 (12) ◽  
Author(s):  
Peifang Jiang ◽  
Yinjie Ling ◽  
Tao Zhu ◽  
Xiaoying Luo ◽  
Yilin Tao ◽  
...  
Keyword(s):  
Mutational Analysis ◽  
Phenotypic Variability ◽  
Han Chinese ◽  
Tic Disorders ◽  
Trna Genes ◽  
Incomplete Penetrance ◽  
Mitochondrial Trna ◽  
Pathogenic Potential ◽  
Total Prevalence ◽  
Chinese Subjects

Abstract Aim: To conduct the clinical, genetic, and molecular characterization of 494 Han Chinese subjects with tic disorders (TD). Methods: In the present study, we performed the mutational analysis of 22 mitochondrial tRNA genes in a large cohort of 494 Han Chinese subjects with TD via Sanger sequencing. These variants were then assessed for their pathogenic potential via phylogenetic, functional, and structural analyses. Results: A total of 73 tRNA gene variants (49 known and 24 novel) on 22 tRNA genes were identified. Among these, 18 tRNA variants that were absent or present in <1% of 485 Chinese control patient samples were localized to highly conserved nucleotides, or changed the modified nucleotides, and had the potential structural to alter tRNA structure and function. These variants were thus considered to be TD-associated mutations. In total, 25 subjects carried one of these 18 putative TD-associated tRNA variants with the total prevalence of 4.96%. Limitations: The phenotypic variability and incomplete penetrance of tic disorders in pedigrees carrying these tRNA mutations suggested the involvement of modifier factors, such as nuclear encoded genes associated mitochondrion, mitochondrial haplotypes, epigenetic, and environmental factors. Conclusion: Our data provide the evidence that mitochondrial tRNA mutations are the important causes of tic disorders among Chinese population. These findings also advance current understanding regarding the clinical relevance of tRNA mutations, and will guide future studies aimed at elucidating the pathophysiology of maternal tic disorders.

Association between Polymorphisms in the Serotonin 2C Receptor Gene and Premature Ejaculation in Han Chinese Subjects

2010 ◽  
Vol 85 (2) ◽  
pp. 204-208 ◽  
Author(s):  
Shunwen Luo ◽  
Yiping Lu ◽  
Feng Wang ◽  
Zhiyuan Xie ◽  
Xiaoke Huang ◽  
...  
Keyword(s):  
Premature Ejaculation ◽  
Receptor Gene ◽  
Han Chinese ◽  
Serotonin 2C Receptor ◽  
Chinese Subjects

scholarly journals GJB2 Mutation Spectrum and Genotype-Phenotype Correlation in 1067 Han Chinese Subjects with Non-Syndromic Hearing Loss

PLoS ONE ◽  
2015 ◽  
Vol 10 (6) ◽  
pp. e0128691 ◽  
Author(s):  
Jing Zheng ◽  
Zhengbiao Ying ◽  
Zhaoyang Cai ◽  
Dongmei Sun ◽  
Zheyun He ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Han Chinese ◽  
Mutation Spectrum ◽  
Phenotype Correlation ◽  
Gjb2 Mutation ◽  
Genotype Phenotype Correlation ◽  
Syndromic Hearing Loss ◽  
Chinese Subjects

scholarly journals PROKR2 missense mutations associated with Kallmann syndrome impair receptor signalling activity

2008 ◽  
Vol 18 (1) ◽  
pp. 75-81 ◽  
Author(s):  
Carine Monnier ◽  
Catherine Dodé ◽  
Ludovic Fabre ◽  
Luis Teixeira ◽  
Gilles Labesse ◽  
...  
Keyword(s):  
Kallmann Syndrome ◽  
Missense Mutations ◽  
Receptor Signalling
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