GPC3基因的大规模缺失可能是少数辛普森-戈拉比-贝梅尔综合征病例的病因。
Large scale deletions in the GPC3 gene may account for a minority of cases of Simpson-Golabi-Behmel syndrome.
作者信息
Lindsay S, Ireland M, O'Brien O, Clayton-Smith J, Hurst J A, Mann J, Cole T, Sampson J, Slaney S, Schlessinger D, Burn J, Pilia G
机构信息
Department of Human Genetics, University of Newcastle upon Tyne, UK.
出版信息
J Med Genet. 1997 Jun;34(6):480-3. doi: 10.1136/jmg.34.6.480.
AIMS OF THE STUDY
To identify the proportion and type of deletions present in the glypican 3 (GPC3) gene in a group of patients with Simpson-Golabi-Behmel syndrome (SGBS).
SUBJECTS AND METHODS
PCR analysis using primer pairs which amplify fragments from each of the eight exons of the GPC3 gene was carried out in a series of 18 families with SGBS (approximately half of reported cases).
RESULTS
Deletions were detected in only five families (one reported previously). We found deletions in all exons of the gene except exon 3.
CONCLUSIONS
Our results suggest that large scale deletions may be less common in SGBS than was originally thought. One patient, with an exon 4 and 5 deletion, lacked the characteristic facial dysmorphic features. This raises the possibility of involvement of GPC3 gene defects in a wider range of overgrowth disorders.
研究目的
确定一组辛普森-戈拉比-贝赫梅尔综合征（SGBS）患者中糖基磷脂酰肌醇蛋白聚糖3（GPC3）基因缺失的比例和类型。
研究对象与方法
使用能扩增GPC3基因八个外显子中每个外显子片段的引物对，对18个SGBS家族（约占已报道病例的一半）进行PCR分析。
结果
仅在五个家族中检测到缺失（其中一个家族先前已有报道）。我们发现该基因除第3外显子外的所有外显子均有缺失。
结论
我们的结果表明，SGBS中大规模缺失可能比最初认为的更为少见。一名第4和第5外显子缺失的患者缺乏典型的面部畸形特征。这增加了GPC3基因缺陷参与更广泛的过度生长疾病的可能性。
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