Analysis of a case of Warburg micro syndrome type 1 due to variant of RAB3GAP1 gene.
10.3760/cma.j.cn511374-20191015-00528
- VernacularTitle:一例
RAB3GAP1变异所致的Warburg micro综合征1型的分析
- Author:
Dongmei YANG
1
;
Xizhen WANG
;
Jian YANG
;
Dongzhi LIU
;
Dongxiao LI
Author Information
1. Rehabilitation Center, Zhengzhou University Children's Hospital, Henan Provincial Children's Hospital, Zhengzhou Children's Hospital, Zhengzhou, Henan 450053, China. li_dongxiao@sina.com.
- Publication Type:Journal Article
- MeSH:
Abnormalities, Multiple/genetics*;
Adult;
Cataract/genetics*;
Child;
Cornea/abnormalities*;
Female;
Humans;
Hypogonadism/genetics*;
Intellectual Disability/genetics*;
Male;
Microcephaly/genetics*;
Mutation;
Optic Atrophy/genetics*;
Whole Exome Sequencing;
rab3 GTP-Binding Proteins/genetics*
- From:
Chinese Journal of Medical Genetics
2020;37(12):1384-1386
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the clinical and genetic characteristics of a child featuring developmental delay.
METHODS:The child was subjected to whole exome sequencing. Candidate variant was verified by Sanger sequencing.
RESULTS:Whole genome sequencing revealed that the child has carried compound heterozygous variants c.2607-1G>C and c.899 + 2dupT of the RAB3GAP1 gene, which were respectively derived from her mother and father.
CONCLUSION:A rare case of Warburg micro syndrome type 1 was diagnosed. The phenotype of the child was consistent with the literature, in addition with dysplasia of palatine arch, prominent high palatal arch and tooth dysplasia. Above finding has provided a basis for genetic counseling and prenatal diagnosis for the family.
