Clinical and genetic analysis of five Chinese pedigrees affected with short stature due to variants of ACAN gene.
10.3760/cma.j.cn511374-20201021-00737
- VernacularTitle:五个
ACAN基因变异致身材矮小家系的临床及遗传学分析
- Author:
Xiaoyan WANG
1
;
Rongrong XIE
;
Haiying WU
;
Xiuli CHEN
;
Fengyun WANG
;
Ting CHEN
;
Hui SUN
;
Linqi CHEN
Author Information
1. Children's Hospital Affiliated to Soochow University, Suzhou, Jiangsu 215000, China. clq631203@aliyun.com.
- Publication Type:Journal Article
- MeSH:
Aggrecans/genetics*;
Body Height/genetics*;
Child;
China;
Genetic Testing;
Humans;
Pedigree;
Retrospective Studies
- From:
Chinese Journal of Medical Genetics
2021;38(10):942-946
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To analyze the clinical and genetic characteristics of five Chinese pedigrees affected with short stature.
METHODS:A retrospective analysis was carried out for the clinical data and results of genetic testing for the probands. A literature search was also conducted.
RESULTS:The five probands have all featured short stature with a family history. Genetic testing has revealed that they have harbored variants of the ACAN gene, including p.Val2042Argfs*6, p.Val1597del, c.630-1G>A, c.23delT and c.2026+1G>A(previously reported).
CONCLUSION:Except for short stature, children harboring heterozygous variants of the ACAN gene may have no involvement of other systems. Some of these children may response to short-term growth hormone treatment.
