Legius syndrome in fourteen families.
Legius syndrome in fourteen families.
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DOI：
10.1002/humu.21404
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发表时间：
2011-01
期刊：
影响因子：
3.9
通讯作者：
Legius, Eric
中科院分区：
文献类型：
--
作者：
Denayer, Ellen;Chmara, Magdalena;Brems, Hilde;Kievit, Anneke Maat;van Bever, Yolande;Van den Ouweland, Ans M. W.;Van Minkelen, Rick;de Goede-Bolder, Arja;Oostenbrink, Rianne;Lakeman, Phillis;Beert, Eline;Ishizaki, Takuma;Mori, Tomoaki;Keymolen, Kathelijn;Van den Ende, Jenneke;Mangold, Elisabeth;Peltonen, Sirkku;Brice, Glen;Rankin, Julia;Van Spaendonck-Zwarts, Karin Y.;Yoshimura, Akihiko;Legius, Eric
Legius综合征是一种常染色体显性遗传疾病，其特征为咖啡色牛奶斑，伴或不伴雀斑，有时表现为努南样外观和/或学习困难。它是由生殖细胞功能丧失SPRED 1突变引起的，是RAS-MAPK通路综合征的成员。大多数突变导致截短的蛋白质，只有少数失活的错义突变已被报道。由于迄今为止仅报告了有限数量的患者，因此完整的临床和突变谱仍然未知。我们报告了14个新的Legius综合征家族的突变数据和临床细节。描述了六种新的种系突变。Trp 31 Cys突变是一种新的致病性SPRED 1错义突变。14个家庭的临床详细信息证实，没有神经纤维瘤和Lisch结节，也没有中枢神经系统肿瘤的高患病率。我们报告了2例患者的脑部MRI扫描显示白色T2高信号，轴后多指畸形和Legius综合征之间存在潜在关联。© 2010 Wiley-Liss，Inc.
Legius syndrome presents as an autosomal dominant condition characterized by café-au-lait macules with or without freckling and sometimes a Noonan-like appearance and/or learning difficulties. It is caused by germline loss-of-function SPRED1 mutations and is a member of the RAS-MAPK pathway syndromes. Most mutations result in a truncated protein and only a few inactivating missense mutations have been reported. Since only a limited number of patients has been reported up until now, the full clinical and mutational spectrum is still unknown. We report mutation data and clinical details in fourteen new families with Legius syndrome. Six novel germline mutations are described. The Trp31Cys mutation is a new pathogenic SPRED1 missense mutation. Clinical details in the 14 families confirmed the absence of neurofibromas, and Lisch nodules, and the absence of a high prevalence of central nervous system tumors. We report white matter T2 hyperintensities on brain MRI scans in 2 patients and a potential association between postaxial polydactyly and Legius syndrome. © 2010 Wiley-Liss, Inc.
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影响因子：
2.3
作者：
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通讯作者：
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影响因子：
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作者：
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通讯作者：
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作者：
Mensink, KA;Ketterling, RP;Babovic-Vuksanovic, D
通讯作者：
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