Genetic analysis of a pedigree of DYNC2H1 gene variation-caused short rib polydactyly syndrome type Ⅲ
10.3760/cma.j.cn113903-20210827-00742
- VernacularTitle:1个 DYNC2H1基因变异导致的短肋多指综合征Ⅲ型家系的遗传学分析
- Author:
Junxia WANG
1
;
Fangna WANG
;
Juan LI
;
Zijia SHI
;
Qingqing CHENG
;
Zongpeng ZHENG
;
Wei CHU
;
Jian GAO
Author Information
1. 河北医科大学研究生院，石家庄 050017
- Keywords:
Short rib-polydactyly syndrome;
Cytoplasmic dyneins;
Osteochondrodysplasias;
Ribs;
Heterozygote;
Genetic variation;
Whole exome sequencing
- From:
Chinese Journal of Perinatal Medicine
2022;25(4):290-293
- CountryChina
- Language:Chinese
-
Abstract:
This paper reported the genetic analysis of a pedigree in which three affected fetuses with short limbs were revealed by first-trimester ultrasonography in three consecutive pregnancies. Tissues of the second aborted fetus were collected and analyzed by chromosome karyotype analysis and whole exome sequencing. The results indicated compound heterozygous mutations of EX64-EX83 Del and c.8190G>T in the DYNC2H1 gene. Real-time fluorescence quantitative polymerase chain reaction and Sanger sequencing further confirmed that the two variants were inherited from the father and the mother with normal phenotypes, respectively. EX64-EX83 Del was a likely pathogenic variant and c.8190G>T was a variant of uncertain significance. Based on the above results and the medical history, it was highly suspected that the fetus had autosomal recessive short rib polydactyly syndrome type Ⅲ caused by compound heterozygous variants. Real-time fluorescent quantitative polymerase chain reaction and Sanger sequencing results of the third aborted fetus were consistent with the second fetus. Given the same phenotypes of fetuses in the second and third pregnancy, it was strongly suggested that the heterozygous variations of EX64-EX83 Del and c.8190G>T in the DYNC2H1 gene were the pathogenic variants in this pedigree.
