DPAGT1-CDG: Recurrent fetal death.

Abstract

BACKGROUND:

Congenital disorders of glycosylation (CDG) are a series of relatively uncommon genetic disorders, and variants in the dolichyl-phosphate N-acetylglucosamine-1-phosphotransferase (DPAGT1) gene can cause DPAGT1-CDG, which is characterized by multisystem abnormalities: failure to thrive, psychomotor retardation, seizures, etc. PATIENTS: Two fetuses in a nonconsanguineous family recurrently presented with irregular skull morphology, micrognathia, adduction and supination by prenatal ultrasound. They were finally found dead in utero. Pedigree whole exome sequencing revealed novel compound heterozygous variants in the DPAGT1 gene. We also reviewed 11 previous reports associated with DPAGT1-CDG.

CONCLUSIONS:

We report novel variants in the DPAGT1 gene in two fetuses from the same family with intrauterine death.

• Authors: Huimin Tao, Yu Sun, Jingfang Zhai, Jiebin Wu
• Journal: Birth defects research (Birth Defects Res) Vol. 115 Issue 13 Pg. 1185-1191 (08 01 2023) ISSN: 2472-1727 [Electronic] United States
• PMID: 37421173 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: © 2023 The Authors. Birth Defects Research published by Wiley Periodicals LLC.

Chemical References

• dolichyl-phosphate alpha-N-acetylglucosaminyltransferase

Topics

• Female
• Humans
• Pregnancy
• Congenital Disorders of Glycosylation (genetics)
• Stillbirth