DYNC2H1 gene mutation analysis and prenatal diagnosis in two pedigrees affected with short rib-polydactyly syndrome type Ⅲ
10.3760/cma.j.cn113903-20210103-00005
- VernacularTitle:短肋多指综合征3型2个家系的 DYNC2H1基因检测及产前诊断
- Author:
Yue SUN
1
;
Ning LIU
;
Qianqian LI
;
Zhihui JIAO
;
Xiangdong KONG
;
Ying BAI
Author Information
1. 郑州大学第一附属医院妇产医学部遗传与产前诊断中心，郑州 450052
- Keywords:
Short Rib-Polydactyly syndrome;
Pedigree;
Cytoplasmic dyneins;
Genetic testing;
High-throughput nucleotide sequencing;
Prenatal diagnosis
- From:
Chinese Journal of Perinatal Medicine
2022;25(1):48-52
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To investigate the molecular genetic etiology of two fetuses with short rib-polydactyly syndrome type Ⅲ (SRPS Ⅲ).Methods:Next-generation sequencing (NGS) was used to detect 226 known genes related to inherited skeletal dysplasia in two fetuses with SRPS Ⅲ diagnosed in the First Affiliated Hospital of Zhengzhou University in August 2015 and June 2020. Suspect pathological variants were verified in the pedigree members using Sanger sequencing. The prenatal genetic diagnosis of the high-risk fetus in pedigree one was conducted to identify the confirmed pathogenic variation.Results:The homozygous mutation of DYNC2H1 gene c.5881A>G(p.Lys1961Glu) was identified in the proband in pedigree one, and the parents were the carriers. The proband in pedigree two carried compound heterozygous mutations in the DYNC2H1 gene with c.10606C>T(p.Arg3536*) inherited from the father and c.8954T>G(p.Val2985Gly) from the mother. Autosomal recessive inheritance was confirmed in both pedigrees. Mutations of c.5881A>G(p.Lys1961Glu) and c.8954T>G(p.Val2985Gly) in the DYNC2H1 gene were likely pathogenic variants and had not been reported before. The prenatal diagnosis did not identify the DYNC2H1 gene c.5881A>G(p.Lys1961Glu) mutation in the fetus (Ⅱ-7) in pedigree one, which was confirmed by the umbilical cord blood sample after birth. Conclusion:DYNC2H1 gene mutation underlies the fetal skeletal dysplasia in the two pedigrees.
