Significant Phenotypic Variability of Muenke Syndrome in Identical Twins
Significant Phenotypic Variability of Muenke Syndrome in Identical Twins
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DOI：
10.1002/ajmg.a.32841
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发表时间：
2009-06-01
影响因子：
2
通讯作者：
Marnocha, Anne
中科院分区：
文献类型：
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作者：
Escobar, Luis F.;Hiett, Adam K.;Marnocha, Anne
Muenke 综合征 (MS)，也称为 Muenke 非综合征性冠状颅缝早闭，是一种常染色体显性遗传疾病，可与更常见的肢端并指畸形区别开来，但表现出显着的变异表型。我们报告了一组同卵双胞胎在怀孕后因产前接触去甲替林而在 FGFR3 基因密码子 250 处出现新发 C749G 突变。这些患者说明了 MS 的可变表达性与相同的基因突变相关。 (C) 2009 Wiley-Liss, Inc.
Muenke syndrome (MS), also known as Muenke nonsyndromic coronal craniosynostosis, is an autosomal dominant condition which can be distinguished from the more common forms of acrocephalosyndactyly but presents a significant variable phenotype. We report on a set of identical twins with a de novo C749G mutation in the FGFR3 gene codon 250 after a pregnancy complicated by prenatal exposure to Nortriptyline. These patients illustrate the variable expressivity of MS in association with an identical gene mutation. (C) 2009 Wiley-Liss, Inc.