Hughes-Benzie R M, Pilia G, Xuan J Y, Hunter A G, Chen E, Golabi M, Hurst J A, Kobori J, Marymee K, Pagon R A, Punnett H H, Schelley S, Tolmie J L, Wohlferd M M, Grossman T, Schlessinger D, MacKenzie A E
Department of Pediatrics, Children's Hospital of Eastern Ontario, University of Ottawa, Canada.
Am J Med Genet. 1996 Dec 11;66(2):227-34. doi: 10.1002/(SICI)1096-8628(19961211)66:2<227::AID-AJMG20>3.0.CO;2-U.
Simpson-Golabi-Behmel syndrome (SGBS) is an X-linked overgrowth disorder recently shown to be caused by mutations in the heparan sulfate proteoglycan GPC3 [Pilia et al., Nat Genet; 12:241-247 1996]. We have used Southern blot analysis and polymerase chain reaction amplification of intra-exonic sequences to identify four new GPC3 mutations and further characterize three previously reported SGBS mutations. De novo GPC3 mutations were identified in 2 families. In general, the mutations were unique deletions ranging from less than 0.1 kb to more than 300 kb in length with no evidence of a mutational hot spot discerned. The lack of correlation between the phenotype of 18 affected males from these 7 families and the location and size of the GPC3 gene mutations suggest that SGBS is caused by a nonfunctional GPC3 protein.
辛普森-戈拉比-贝梅尔综合征（SGBS）是一种X连锁过度生长疾病，最近研究表明它是由硫酸乙酰肝素蛋白聚糖GPC3的突变引起的[皮利亚等人，《自然遗传学》；12:241 - 247，1996年]。我们运用Southern印迹分析以及外显子内序列的聚合酶链反应扩增来鉴定4个新的GPC3突变，并进一步对3个先前报道的SGBS突变进行特征描述。在2个家族中鉴定出了新生的GPC3突变。总体而言，这些突变是独特的缺失，长度从小于0.1 kb到超过300 kb不等，未发现有明显的突变热点。这7个家族中18名受影响男性的表型与GPC3基因突变的位置和大小之间缺乏相关性，这表明SGBS是由无功能的GPC3蛋白引起的。
