Prenatal diagnosis of Proteus syndrome: Diagnosis of an AKT1 mutation from amniocytes
| Autor: | Marissa Vawter-Lee, Robert J. Hopkin, Leandra K. Tolusso, Stefanie Riddle, Maria A. Calvo-Garcia, Vivian Hwa, Nicki Smith, Howard M. Saal, Qiaoning Guan, Mounira Habli, Karin S. Bierbrauer, Katherine Abell |
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| Rok vydání: | 2020 |
| Předmět: |
0301 basic medicine
Embryology Pathology medicine.medical_specialty Health Toxicology and Mutagenesis AKT1 Prenatal diagnosis 030105 genetics & heredity Toxicology medicine.disease_cause Proteus Syndrome 03 medical and health sciences symbols.namesake Pregnancy Prenatal Diagnosis medicine Humans Megalencephaly Exome sequencing Sanger sequencing Mutation business.industry medicine.disease Phenotype Proteus syndrome 030104 developmental biology Pediatrics Perinatology and Child Health symbols Female business Proto-Oncogene Proteins c-akt Developmental Biology |
| Zdroj: | Birth Defects Research. 112:1733-1737 |
| ISSN: | 2472-1727 |
| DOI: | 10.1002/bdr2.1801 |
| Popis: | Proteus syndrome is a mosaic genetic overgrowth disorder caused by a postzygotic, mosaic activating mutation in AKT1. Rare prenatal presentations include segmental tissue overgrowth, and skeletal and CNS anomalies. We present the first report of prenatally diagnosed and molecularly confirmed Proteus syndrome. Prenatal imaging identified megalencephaly, brain and eye malformations, focal soft tissue enlargement, and ambiguous genitalia. Exome sequencing performed on cultured amniocytes demonstrated an AKT1 pathogenic variant consistent with Proteus syndrome, and postnatal examination confirmed the diagnosis. Postnatal Sanger sequencing could not identify the AKT1 pathogenic variant. This case underscores the importance of prenatal exome sequencing on cultured amniocytes for mosaic overgrowth disorders, as well as provides additional information on the prenatal phenotype of Proteus syndrome, and highlights the impact of prenatal diagnosis on postnatal management. |
| Databáze: | OpenAIRE |
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