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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
- 168 - 172 (5page)
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Neonatal cerebral sinovenous thrombosis (CSVT) is a rare disease with severe neurological sequelae. Methylenetetrahydrofolate reductase (MTHFR) is a key enzyme in the folate cycle, and mutations in MTHFR are associated with vascular diseases. Here, we report the case of a newborn with MTHFR mutation-associated CSVT. Analysis of MTHFR in the patient detected heterozygous C677T (677CT) and A1298C (1298AC) mutations. Analysis of MTHFR in the patient's mother did not detect a C677T (677CC) mutation but detected a homozygous A1298C (1298CC) mutation. Our results suggest that the presence of heterozygous MTHFR C677T and A1298C mutations affect thrombophilic activity in the neonate, resulting in the development of refractory seizure and CSVT. Moreover, presence of the homozygous MTHFR A1298C mutation in the patient's mother, who did not show any symptoms associated with thrombophilic activity, and conditions during gestation may have affected the patient's condition.
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참고문헌 (18)
참고문헌 신청
Weisberg I / 1998 / A second genetic polymorphism in methylenetetrahydrofolate reductase (MTHFR) associated with decreased enzyme activity / Mol Genet Metab 64:169~172
Fodinger M / 2000 / Molecular biology of 5,10-methylenetetrahydrofolate reductase / J Nephrol 13:20~33
Altomare I / 2007 / The 5, 10 methylenetetrahydrofolate reductase C677T mutation and risk of fetal loss: a case series and review of the literature / Thromb J 5:17
Gibson CS / 2006 / Associations between fetal inherited thrombophilia and adverse pregnancy outcomes / Am J Obstet Gynecol 194(947):e1~e10
van der Put NM / 1998 / A second common mutation in the methylenetetrahydrofolate reductase gene: an additional risk factor for neural-tube defects? / Am J Hum Genet 62:1044~1051
Fodinger M / 2000 / Molecular biology of 5,10-methylenetetrahydrofolate reductase / J Nephrol 13:20~33
Altomare I / 2007 / The 5, 10 methylenetetrahydrofolate reductase C677T mutation and risk of fetal loss: a case series and review of the literature / Thromb J 5:17
Gibson CS / 2006 / Associations between fetal inherited thrombophilia and adverse pregnancy outcomes / Am J Obstet Gynecol 194(947):e1~e10
van der Put NM / 1998 / A second common mutation in the methylenetetrahydrofolate reductase gene: an additional risk factor for neural-tube defects? / Am J Hum Genet 62:1044~1051
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