[Clinical and genetic analysis of five Chinese pedigrees affected with short stature due to variants of ACAN gene].

Authors :: Wang X
Xie R
Wu H
Chen X
Wang F
Chen T
Sun H
Chen L
Source :: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics [Zhonghua Yi Xue Yi Chuan Xue Za Zhi] 2021 Oct 10; Vol. 38 (10), pp. 942-946.
Publication Year :: 2021
Abstract: Objective: To analyze the clinical and genetic characteristics of five Chinese pedigrees affected with short stature.<br />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.<br />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).<br />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.

Subjects :: Child
China
Genetic Testing
Humans
Pedigree
Retrospective Studies
Aggrecans genetics
Body Height genetics

Language :: Chinese
ISSN :: 1003-9406
Volume :: 38
Issue :: 10
Database :: MEDLINE
Journal :: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Publication Type :: Academic Journal
Accession number :: 34625928
Full Text :: https://doi.org/10.3760/cma.j.cn511374-20201021-00737

Full Text Access

Tools