伴有POMT1基因突变的沃克-沃尔堡综合征可能与唇腭裂有关。
Walker-Warburg Syndrome with POMT1 mutations can be associated with cleft lip and cleft palate.
作者信息
Vajsar Jiri, Baskin Berivan, Swoboda Kathryn, Biggar Doug W, Schachter Harry, Ray Peter N
机构信息
Division of Neurology, The Hospital for Sick Children, 555 University Avenue, Toronto, Ont., Canada M5G 1X8.
出版信息
Neuromuscul Disord. 2008 Aug;18(8):675-7. doi: 10.1016/j.nmd.2008.05.014. Epub 2008 Jul 18.
Walker-Warburg Syndrome (WWS) is an alpha-dystroglycan deficient congenital muscular dystrophy that is associated with brain and eye abnormalities. Patients present with hypotonia, weakness, developmental delay, mental retardation and occasional seizures. Other abnormalities were also described including cleft lip and palate. Mutations in POMT1, POMT2, fukutin, FKRP and LARGE genes are found in 20-30% of children with WWS. We report a novel mutation in POMT1 gene and provide further evidence that WWS with cleft lip and palate is associated with POMT1 mutations. We recommend POMT1 analysis in WWS cases associated with cleft lip and palate when considering which gene to sequence first.
沃克-沃尔堡综合征（WWS）是一种α-肌营养不良聚糖缺乏的先天性肌营养不良症，与脑和眼异常有关。患者表现为肌张力减退、肌无力、发育迟缓、智力障碍和偶尔的癫痫发作。还描述了其他异常情况，包括唇腭裂。在20%-30%的WWS儿童中发现了POMT1、POMT2、福金、FKRP和LARGE基因的突变。我们报告了POMT1基因的一种新突变，并提供了进一步证据，表明伴有唇腭裂的WWS与POMT1突变有关。当考虑首先对哪个基因进行测序时，我们建议对伴有唇腭裂的WWS病例进行POMT1分析。
Zotero 插件