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학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2016.1
- 수록면
- 260 - 263 (4page)
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초록· 키워드
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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.
목차
등록된 정보가 없습니다.
참고문헌 (13)
참고문헌 신청
Fauth C / 2016 / A recurrent germline mutation in the PIGA gene causes SimpsonGolabi-Behmel syndrome type 2 / Am J Med Genet A 170A:392~402
Takeda J / 1993 / Deficiency of the GPI anchor caused by a somatic mutation of the PIG-A gene in paroxysmal nocturnal hemoglobinuria / Cell 73:703~711
Maydan G / 2011 / Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN / J Med Genet 48:383~389
Biesecker LG / 2014 / Diagnostic clinical genome and exome sequencing / N Engl J Med 370:2418~2425
Johnston JJ / 2012 / The phenotype of a germline mutation in PIGA: the gene somatically mutated in paroxysmal nocturnal hemoglobinuria / Am J Hum Genet 90:295~300
Takeda J / 1993 / Deficiency of the GPI anchor caused by a somatic mutation of the PIG-A gene in paroxysmal nocturnal hemoglobinuria / Cell 73:703~711
Maydan G / 2011 / Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN / J Med Genet 48:383~389
Biesecker LG / 2014 / Diagnostic clinical genome and exome sequencing / N Engl J Med 370:2418~2425
Johnston JJ / 2012 / The phenotype of a germline mutation in PIGA: the gene somatically mutated in paroxysmal nocturnal hemoglobinuria / Am J Hum Genet 90:295~300
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