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A Neonate with a PIGA c.1234C˃T Mutation as a Novel Cause of Neonatal Early Infantile Epileptic Encephalopathy

Title
A Neonate with a PIGA c.1234C˃T Mutation as a Novel Cause of Neonatal Early Infantile Epileptic Encephalopathy
Author
박현경
Keywords
PIGA; Exome; Sequence Analysis; DNA; Developmental delay; Dysmorphism
Issue Date
2016-12
Publisher
대한주산의학회
Citation
Perinatology, v. 27, NO 4, Page. 260-263
Abstract
Multiple congenital anomalies-hypotonia-seizures syndrome-2 is a genetic disorder also known as infantile epileptic encephalopathy. This disorder is associated with a mutation in the PIGA gene, resulting in defective in glycosylphosphatidylinositol biosynthesis. Multiple congenital anomalies-hypotonia-seizures syndrome has variable clinical symptoms; the severity of the congenital anomalies has been reported to be correlated with the loss of PIGA activity. We report a neonatal case of multiple congenital anomalies-hypotonia-seizures syndrome-2 with a PIGA c.1234C>T (p.Arg412*) mutation, which was discovered by exome sequencing and confirmed by Sanger sequencing. The reported patient had omphalocele, facial dysmorphism, neonatal hypotonia, and seizures. To our knowledge, this is the first report in Korea of a neonatal case diagnosed with multiple congenital anomalies-hypotonia-seizures syndrome-2 associated with a germline PIGA c.1234C>T (p.Arg412*) mutation.
URI
https://synapse.koreamed.org/DOIx.php?id=10.14734/PN.2016.27.4.260https://repository.hanyang.ac.kr/handle/20.500.11754/102482
ISSN
2508-4887; 2508-4895
DOI
10.14734/PN.2016.27.4.260
Appears in Collections:
COLLEGE OF MEDICINE[S](의과대학) > MEDICINE(의학과) > Articles
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