Genetic analysis and prenatal diagnosis of a pregnant woman with Sheldon-Hall syndrome.
10.3760/cma.j.cn511374-20190720-00359
- VernacularTitle:一例Sheldon-Hall综合征孕妇的遗传学分析及产前诊断
- Author:
Kefeng TANG
1
;
Xueping SHEN
;
Yan SHU
;
Juan YAO
;
Guosong SHEN
Author Information
1. Huzhou Maternity and Child Health Care Hospital, Zhejiang 313000, China. 94612701@qq.com.
- Publication Type:Journal Article
- From:
Chinese Journal of Medical Genetics
2020;37(9):1025-1028
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To provide genetic testing and prenatal diagnosis for a woman with Sheldon-Hall syndrome.
METHODS:The woman was subjected to targeted capture and next-generation sequencing for variant of genes associated with skeletal disorders. And the result was verified in her parents and fetus.
RESULTS:The woman was found to harbor a c.188G>A variant of the TNNT3 gene, which was also found in her affected mother and the fetus. Her grandmother and grandmother's brother had similar manifestations, which was in line with an autosomal dominant inheritance. The same variant was not found in her father.
CONCLUSION:The c.188G>A variant of the TNNT3 gene probably underlay the distal joint contracture in this pedigree, based on which prenatal diagnosis was attained.
