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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
- 2017.1
- 수록면
- 1 - 3 (3page)
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Neonatal Marfan syndrome (nMFS) is considered to be on the most severe end of the spectrum of type I fibrillinopathies. The common features of nMFS include ascending aortic dilatation, severe mitral and/or tricuspid valve insufficiency, ectopia lentis, arachnodactyly, joint contractures, crumpled ear, loose skin, and pulmonary emphysema.We describe a newborn male diagnosed with nMFS. He presented several atypical features, such as diaphragmatic eventration, severe hydronephrosis with hydroureter, and dilated cisterna magna. Molecular analysis revealed a missense mutation at nucleotide 3217 (c.3217G>A) in exon 26 of the fibrillin-1 (FBN1) gene, resulting in the substitution of a glutamate for a lysine at codon 1073 (E1073K) in the 12th calcium binding epidermal growth factor-like domain of the FBN1 protein. Here we report a rare case of Nmfs with several combined atypical features, such as diaphragmatic eventration, severe hydronephrosis with hydroureter, and dilated cisterna magna. Our report is the first atypical nMFS case with p.Glu1073Lys mutation of FBN1 in Korea and may help clinicians with the diagnosis and follow-up of atypical nMFS.
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참고문헌 (7)
참고문헌 신청
von Kodolitsch Y / 2015 / Perspectives on the revised Ghent criteria for the diagnosis of Marfan syndrome / Appl Clin Genet 8:137~155
Robinson PN / 2006 / The molecular genetics of Marfan syndrome and related disorders / J Med Genet 43:769~787
Mizuguchi T / 2007 / Recent progress in genetics of Marfan syndrome and Marfan-associated disorders / J Hum Genet 52:1~12
Hennekam RC / 2005 / Severe infantile Marfan syndrome versus neonatal Marfan syndrome / Am J Med Genet A 139:1
Faivre L / 2009 / Clinical and molecular study of 320 children with Marfan syndrome and related type I fibrillinopathies in a series of 1009 probands with pathogenic FBN1 mutations / Pediatrics 123:391~398
Robinson PN / 2006 / The molecular genetics of Marfan syndrome and related disorders / J Med Genet 43:769~787
Mizuguchi T / 2007 / Recent progress in genetics of Marfan syndrome and Marfan-associated disorders / J Hum Genet 52:1~12
Hennekam RC / 2005 / Severe infantile Marfan syndrome versus neonatal Marfan syndrome / Am J Med Genet A 139:1
Faivre L / 2009 / Clinical and molecular study of 320 children with Marfan syndrome and related type I fibrillinopathies in a series of 1009 probands with pathogenic FBN1 mutations / Pediatrics 123:391~398
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