Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics · 2021
[Clinical and genetic analysis of five Chinese pedigrees affected with short stature due to variants of ACAN gene].
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Wang Xiaoyan, Xie Rongrong, Wu Haiying, Chen Xiuli, Wang Fengyun, Chen Ting, Sun Hui, Chen Linqi
Аннотация
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.
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.