Family analysis of a child with Short-rib polydactyly syndrome type III due to variant of DYNC2H1 gene.
10.3760/cma.j.cn511374-20210628-00549
- Author:
Haiyue ZHAO
1
;
Leilei LI
;
Ruizhi LIU
;
Xiao YANG
Author Information
1. Reproductive Center and Prenatal Diagnosis Center, the First Hospital of Jilin University, Changchun, Jilin 130021, China. yxxbsw@sina.com.
- Publication Type:Journal Article
- MeSH:
Child;
Cytoplasmic Dyneins/genetics*;
Humans;
Mutation;
Pedigree;
Ribs;
Short Rib-Polydactyly Syndrome/genetics*
- From:
Chinese Journal of Medical Genetics
2022;39(8):881-883
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To report on the clinical characteristics of a family of short-rib polydactyly syndrome type III and its pathogenic variants.
METHODS:Muscle samples from the the third fetus was collected after the induction of labor, and peripheral blood samples of its parents and grandparents were also collected. Whole exome sequencing (WES) was carried out for the pedigree. Candidate variants were verified by Sanger sequencing of the family.
RESULTS:The proband was found to harbor a c.9819+1G>A variant and a c.4625C>A variant of the DYNC2H1 gene, which were respectively inherited from its mother and father. Sanger sequencing verified that the family has fit the autosomal recessive inheritance.
CONCLUSION:The c.9819+1G>A and c.4625C>A variants of the DYNC2H1 gene probably underlay the short-rib polydactyly syndrome type 3 in the proband.
