关键词: 矮小症, 遗传病因, 基因型, 临床表型, 儿童

Abstract:

Objective To explore the genetic etiology of short stature in children. Methods This study selected children with short stature who were treated for growth disorder from January 2017 to October 2020. The whole exome sequencing (WES) was performed to identify potential genetic etiologies, and the possible copy number variants of chromosome fragments were further improved by chromosomal microarray analysis (CMA), and the clinical phenotypic differences between gene test positive and negative groups were compared. Results A total of 186 children with short stature were included, with a median age of 7.3 (5.1-9.1) years, including 103 boys and 83 girls. A total of 69 cases of positive results were detected, with a positive rate of 37.1%. Fifty-four were tested by WES and 15 by CMA. Binary logistic regression analysis showed facial dysmorphism or skeletal abnormalities were predictors of positive gene detection results in children with short stature (all P<0.05). Conclusion Whole exome sequencing is an effective technique to detect the genetic etiology of short stature in children, and Patients with facial dysmorphism and/or skeletal abnormalities are more likely to have a known genetic etiology.

Key words: short stature, genetic etiology, genotype, phenotype, child