Perinatology.  2016 Dec;27(4):260-263. 10.14734/PN.2016.27.4.260.

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

• Hwang JK
• Cha TH
• Jang JH
• Park HK
• Kim CR
• Seol IJ
• Lee HJ

• KMID: 2367039
• DOI: http://doi.org/10.14734/PN.2016.27.4.260

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.

Keyword

PIGA; Exome; Sequence Analysis; DNA; Developmental delay; Dysmorphism

MeSH Terms

Brain Diseases*
DNA
Exome
Glycosylphosphatidylinositols
Hernia, Umbilical
Humans
Infant, Newborn*
Korea
Muscle Hypotonia
Seizures
Sequence Analysis
DNA
Glycosylphosphatidylinositols

Figure

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  Fig. 1 The patient at birth, showing omphalocele. Also showing dysmorphic facial appearance and depressed nasal bridge.

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  Fig. 2 Chromatogram of the patient's PIGA sequence. A hemizygous nonsense variation in exon 6 (NM_002641.3:c. 1234C>T, p.Arg412*) was detected.

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