Mutations and variants in the cohesion factor genes NIPBL, SMC1A, and SMC3 in a cohort of 30 unrelated patients with Cornelia de Lange syndrome.
Mutations and variants in the cohesion factor genes NIPBL, SMC1A, and SMC3 in a cohort of 30 unrelated patients with Cornelia de Lange syndrome.
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DOI：
10.1002/ajmg.a.33348
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发表时间：
2010-04
影响因子：
2
通讯作者：
Ramos, Feliciano J.
中科院分区：
文献类型：
--
作者：
Pie, Juan;Concepcion Gil-Rodriguez, Maria;Ciero, Milagros;Lopez-Vinas, Eduardo;Pilar Ribate, Maria;Arnedo, Maria;Deardorff, Matthew A.;Puisac, Beatriz;Legarreta, Jesus;Carlos de Karam, Juan;Rubio, Encarnacion;Bueno, Ines;Baldellou, Antonio;Teresa Calvo, Ma;Casals, Nuria;Luis Olivares, Jose;Losada, Ana;Hegardt, Fausto G.;Krantz, Ian D.;Gomez-Puertas, Paulino;Ramos, Feliciano J.
科尔内利亚德兰格综合征（CdLS），并表现出面部畸形特征、生长和认知障碍以及肢体畸形。在受影响的患者中发现了三个基因（NIPBL，SMC1A和SMC3）的Cohesin复合物及其调节因子的突变。在这里，我们提出了30个无关的CdLS患者的临床和分子特征。11例患者有NIPBL突变（37%），3例患者有SMC1A突变（10%），总突变率为47%。几名患者在NIPBL（p.R827GfsX2）中共享相同的突变，但具有可变的表型，表明CdLS中修饰剂的影响。NIPBL突变患者的表型比SMC1A突变患者或未发现突变的患者更严重。然而，在SMC1A突变的患者中，腭缺陷的发生率很高。此外，我们在SMC1A突变的男性和女性患者中观察到相似的表型。最后，我们报告了第一例SMC1A突变和Sandifer复合体的患者。
Cornelia de Lange Syndrome (CdLS) and manifests facial dysmorphic features, growth and cognitive impairment, and limb malformations. Mutations in three genes (NIPBL, SMC1A and SMC3) of the Cohesin complex and its regulators have been found in affected patients. Here, we present clinical and molecular characterization of 30 unrelated patients with CdLS. Eleven patients had mutations NIPBL (37%) and three patients had mutations in SMC1A (10%), giving an overall rate of mutations of 47%. Several patients shared the same mutation in NIPBL (p.R827GfsX2) but had variable phenotypes, indicating the influence of modifiers in CdLS. Patients with NIPBL mutations had a more severe phenotype than those with mutations in SMC1A or those without identified mutations. However, a high incidence of palate defects was noted in patients with SMC1A mutations. In addition, we observed a similar phenotype in both male and female patients with SMC1A mutations. Finally, we report the first patient with an SMC1A mutation and the Sandifer complex.
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影响因子：
2
作者：
Yan, Jiong;Saifi, Gulam Mustafa;Wierzba, Jolanta
通讯作者：
Wierzba, Jolanta
Pfam：氏族、网络工具和服务。
影响因子：
14.9
作者：
Finn, Robert D.;Mistry, Jaina;Schuster-Bockler, Benjamin;Griffiths-Jones, Sam;Hollich, Volker;Lassmann, Timo;Moxon, Simon;Marshall, Mhairi;Khanna, Ajay;Durbin, Richard;Eddy, Sean R.;Sonnhammer, Erik L. L.;Bateman, Alex
通讯作者：
Bateman, Alex
DOI：
10.1002/ajmg.10066
发表时间：
2001-12-15
期刊：
AMERICAN JOURNAL OF MEDICAL GENETICS
影响因子：
--
作者：
Russell, KL;Ming, JE;Krantz, ID
通讯作者：
Krantz, ID
影响因子：
5.2
作者：
Schoumans, Jacqueline;Wincent, Josephine;Anderlid, Britt Marie
通讯作者：
Anderlid, Britt Marie
影响因子：
9.8
作者：
Deardorff, Matthew A.;Kaur, Maninder;Krantz, Ian D.
通讯作者：
Krantz, Ian D.