Analysis of a child with holoprosencephaly due to variant of SIX3 gene.
10.3760/cma.j.cn511374-20200429-00315
- VernacularTitle:SIX3基因变异导致前脑无裂畸形患儿的遗传学分析
- Author:
Hong ZENG
1
;
Ziwen XIAO
;
Yongzhe XU
;
Wen QIAN
;
Wei PAN
;
Danqing ZHAO
Author Information
1. Guizhou Provincial Prenatal Diagnosis Center, the Affiliated Hospital of Guizhou Medical University, Guiyang, Guizhou 550004, China. 1070627325@qq.com.
- Publication Type:Journal Article
- MeSH:
Child;
Family;
Female;
Heterozygote;
Holoprosencephaly/genetics*;
Humans;
Mutation;
Whole Exome Sequencing
- From:
Chinese Journal of Medical Genetics
2021;38(7):656-658
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the genetic basis of a child with holoprosencephaly.
METHODS:Genomic DNA of the child was extracted and subjected to whole exome sequencing. Suspected variant was verified by Sanger sequencing of her family members.
RESULTS:Cranial MRI suggested lobulated holoprosencephaly with partial absence of corpus callosum. Genetic testing revealed that she has carried a heterozygous c.517C>G (p.His173Asp) variant of the SIX3 gene, for which both of her parents were of wild type. Based on the American College of Medical Genetics and Genomics guidelines, the c.517C>G variant of SIX3 gene was predicted to be pathogenic (PS2+PM1+PM2+PM5+PP3).
CONCLUSION:The SIX3 gene c.517C>G variant probably underlay the multiple malformations in this child. Above finding has enabled her definite diagnosis.
