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Murine Fetal Echocardiography

Murine Fetal Echocardiography

Published on: February 15, 2013

DPAGT1-CDG: Recurrent fetal death.

Huimin Tao^1,2,3, Yu Sun^1,2,3,4, Jingfang Zhai^1,2,3

¹Xuzhou Clinical College of Xuzhou Medical University, Xuzhou, Jiangsu, China.

Birth Defects Research

|July 8, 2023

Summary

Novel genetic variants in the dolichyl-phosphate N-acetylglucosamine-1-phosphotransferase (DPAGT1) gene were identified in two fetuses with congenital disorders of glycosylation (CDG). These DPAGT1-CDG cases resulted in intrauterine fetal demise.

Keywords:

DPAGT1 congenital disorders of glycosylation genetic analysis intrauterine fetal death pedigree whole exome sequencing

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High Frequency Ultrasound for the Analysis of Fetal and Placental Development In Vivo

High Frequency Ultrasound for the Analysis of Fetal and Placental Development In Vivo

Published on: November 8, 2018

Area of Science:

Genetics
Biochemistry
Developmental Biology

Background:

Congenital disorders of glycosylation (CDG) are rare genetic conditions affecting protein modification.
DPAGT1-CDG, caused by variants in the DPAGT1 gene, presents with severe multisystem abnormalities.
The DPAGT1 enzyme is crucial for the initial step of N-glycosylation.

Observation:

Two fetuses from a nonconsanguineous family exhibited recurrent prenatal ultrasound findings of irregular skull morphology and limb abnormalities.
Both fetuses experienced intrauterine fetal demise.
Pedigree analysis and whole exome sequencing were performed.

Findings:

Novel compound heterozygous variants in the DPAGT1 gene were identified in the affected fetuses.
This genetic finding confirms DPAGT1-CDG as the cause of the observed abnormalities and fetal demise.
Previous reports of DPAGT1-CDG were reviewed, adding these cases to the known spectrum.

Implications:

This study expands the understanding of pathogenic variants in the DPAGT1 gene.
Identifies novel DPAGT1 variants associated with severe congenital disorders of glycosylation and intrauterine fetal death.
Highlights the importance of genetic testing for DPAGT1-CDG in cases of unexplained fetal abnormalities and demise.