Clinical and genetic analysis of a child with spondyloepimetaphyseal dysplasia type 1 and joint laxity.
10.3760/cma.j.issn.1003-9406.2020.08.020
- Author:
Jianwei ZHANG
1
;
Ke HUANG
;
Guanping DONG
Author Information
1. The Affiliated Children's Hospital of Zhejiang University, Hangzhou, Zhejiang 310052, China. kehuang@zju.edu.cn.
- Publication Type:Journal Article
- From:
Chinese Journal of Medical Genetics
2020;37(8):887-890
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the genetic basis for a child with spondyloepimetaphyseal dysplasia type 1 and joint laxity.
METHODS:High-throughput sequencing and Sanger sequencing were used to analyze potential variant of the B3GALT6 gene.
RESULTS:DNA sequencing has identified 2 variants of the B3GALT6 gene in the patient, namely c.694C>T and c.539_540insCCT, which were respectively derived from his father and mother.
CONCLUSION:The c.694C>T and c.539_540insCCT variants of the B3GALT6 gene probably underlie the disease in the patient. The result has enabled molecular diagnosis, genetic counseling and prenatal diagnosis for his family.
