一名患有严重马凡综合征的新生儿中纤连蛋白-1基因的新型突变。
A novel mutation of the fibrillin-1 gene in a newborn with severe Marfan syndrome.
作者信息
Kochilas L, Gundogan F, Atalay M, Bliss J M, Vatta M, Pena L S, Abuelo D
机构信息
Department of Pediatrics, Division of Pediatric Cardiology, Hasbro Children's Hospital, Providence, RI, USA.
出版信息
J Perinatol. 2008 Apr;28(4):303-5. doi: 10.1038/sj.jp.7211915.
PMID:18379569
Abstract
Marfan syndrome in the neonatal age represents a severe early and commonly lethal manifestation of Marfan syndrome, which is caused by mutations in the gene encoding fibrillin-1 (FBN1). Here, we report a newborn with severe Marfan syndrome and a novel mutation involving cysteine substitution within one of the epidermal growth factor-like domains of FBN1.
摘要
新生儿期的马凡综合征是马凡综合征一种严重的早期且通常致命的表现形式，它由编码原纤蛋白-1（FBN1）的基因突变引起。在此，我们报告一例患有严重马凡综合征的新生儿，其FBN1的一个表皮生长因子样结构域内存在涉及半胱氨酸替代的新突变。
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