DPAGT1-CDG : Recurrent fetal death
© 2023 The Authors. Birth Defects Research published by Wiley Periodicals LLC..
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.
| Medienart: |
E-Artikel |
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| Erscheinungsjahr: |
2023 |
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| Erschienen: |
2023 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:115 |
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| Enthalten in: |
Birth defects research - 115(2023), 13 vom: 01. Aug., Seite 1185-1191 |
| Sprache: |
Englisch |
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| Beteiligte Personen: |
Tao, Huimin [VerfasserIn] |
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| Links: |
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| Anmerkungen: |
Date Completed 11.08.2023 Date Revised 24.08.2023 published: Print-Electronic Citation Status MEDLINE |
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| doi: |
10.1002/bdr2.2219 |
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| funding: |
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| Förderinstitution / Projekttitel: |
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| PPN (Katalog-ID): |
NLM359222269 |
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| 520 | |a © 2023 The Authors. Birth Defects Research published by Wiley Periodicals LLC. | ||
| 520 | |a 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 | ||
| 520 | |a CONCLUSIONS: We report novel variants in the DPAGT1 gene in two fetuses from the same family with intrauterine death | ||
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| 700 | 1 | |a Wu, Jiebin |e verfasserin |4 aut | |
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