Variant analysis of CCBE1 gene in a case of Hennekam lymphangiectasia-lymphedema syndrome type 1.
10.3760/cma.j.issn.1003-9406.2020.06.018
- Author:
Ying REN
1
;
Yi LIU
;
Yuqiang LYU
;
Min GAO
;
Dong WANG
;
Ya WAN
;
Jian MA
;
Nan SHEN
;
Zhongtao GAI
Author Information
1. Cheeloo College of Medicine, Shandong University, Jinan, Shandong 250012, China. gaizhongtao@sina.
- Publication Type:Journal Article
- From:
Chinese Journal of Medical Genetics
2020;37(6):669-672
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the genetic etiology of a child with lymphangiectasia and lymphedema.
METHODS:DNA sample of the patient was extracted and subjected to whole exome sequencing. Suspected variants were verified by Sanger sequencing.
RESULTS:The patient was found to carry compound heterozygote variants (c.521G>A and c.472C>T) of the CCBE1 gene, which were respectively inherited from his parents.
CONCLUSION:The compound heterozygote variants of the CCBE1 gene probably underlie the disease in this child.
