scholarly journals Two novel SASH1 mutations in Chinese families with dyschromatosis universalis hereditaria

2021 ◽  
Author(s):  
Jia‐Wei Liu ◽  
Xiaerbati Habulieti ◽  
Rong‐rong Wang ◽  
Dong‐Lai Ma ◽  
Xue Zhang
Keyword(s):  
Chinese Families

The mitochondrial tRNAMet/tRNAGlnA4401G and tRNACysG5821A mutations may be associated with hypertension in two Han Chinese families

2014 ◽  
Vol 36 (2) ◽  
pp. 127-134
Author(s):  
Xu Meifen ◽  
He Yiqun ◽  
Geng Junwei ◽  
Meng Yanzi ◽  
Yu Han ◽  
...  
Keyword(s):  
Han Chinese ◽  
Chinese Families

scholarly journals Novel MSX1 variants identified in families with nonsyndromic oligodontia

2021 ◽  
Vol 13 (1) ◽  
Author(s):  
Jinglei Zheng ◽  
Miao Yu ◽  
Haochen Liu ◽  
Tao Cai ◽  
Hailan Feng ◽  
...  
Keyword(s):  
Current Data ◽  
Phenotypic Characterization ◽  
Functional Evaluation ◽  
Gene Variants ◽  
Chinese Families ◽  
Whole Exome ◽  
Bioinformatics Databases ◽  
Uncertain Significance ◽  
Vitro Analysis

AbstractThe goal of this study was to identify MSX1 gene variants in multiple Chinese families with nonsyndromic oligodontia and analyse the functional influence of these variants. Whole-exome sequencing (WES) and Sanger sequencing were performed to identify the causal gene variants in five families with nonsyndromic oligodontia, and a series of bioinformatics databases were used for variant confirmation and functional prediction. Phenotypic characterization of the members of these families was described, and an in vitro analysis was performed for functional evaluation. Five novel MSX1 heterozygous variants were identified: three missense variants [c.662A>C (p.Q221P), c.670C>T (p.R224C), and c.809C>T (p.S270L)], one nonsense variant [c.364G>T (p.G122*)], and one frameshift variant [c.277delG (p.A93Rfs*67)]. Preliminary in vitro studies demonstrated that the subcellular localization of MSX1 was abnormal with the p.Q221P, p.R224C, p.G122*, and p.A93Rfs*67 variants compared to the wild type. Three variants (p.Q221P, p.G122*, and p.A93Rfs*67) were classified as pathogenic or likely pathogenic, while p.S270L and p.R224C were of uncertain significance in the current data. Moreover, we summarized and analysed the MSX1-related tooth agenesis positions and found that the type and variant locus were not related to the severity of tooth loss. Our results expand the variant spectrum of nonsyndromic oligodontia and provide valuable information for genetic counselling.

Parenting Programs for Disruptive Child Behavior in China: A Meta-Analysis and Systematic Review

2021 ◽  
pp. 104973152110185
Author(s):  
Ningxuan Hua ◽  
Patty Leijten
Keyword(s):  
Child Behavior ◽  
Meta Analysis ◽  
Behavioral Approach ◽  
Parenting Programs ◽  
Behavioral Management ◽  
Total N ◽  
Chinese Families ◽  
Inconsistent Parenting ◽  
Program Effects ◽  
Disruptive Child Behavior

Purpose: To synthesize evidence of parenting program effects on disruptive child behavior in China and compare three program approaches: behavioral, relational, and cognitive. Methods: We searched five databases (four English and one Chinese) and identified 45 studies; 29 studies were included in a multilevel meta-analysis (92 effect sizes; total N total = 3,892; M child age = 6.12 years). Results: We found large overall effects on reduced disruptive child behavior ( d = −1.28, 95% CI [−1.86, −0.70], p < .001), reduced harsh and inconsistent parenting ( d = −1.70, 95% CI [−2.91, −0.49], p <.001), and improved parental warmth and positive behavioral management ( d = 2.67, 95% CI [0.41, 4.93], p <.001). Behavioral programs were more effective than relational programs (Δ d = .89, 95% CI [−1.7, −0.13], p = .034), and cognitive programs were too rare to analyze separately. Conclusions: Parenting programs for disruptive child behavior can effectively support Chinese families, especially those adopting a behavioral approach.

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