中文摘要：

目的对一个常染色体显性遗传的Van der Hoeve综合征家系进行详尽的临床表型分析及可能的致病基因COL1A1突变检测,探讨该家系基因型及表型的关系。方法对收集到的Van der Hoeve综合征家系进行病史及血液样本采集,并对家庭主要成员进行COL1A1基因全部外显子DNA序列分析,利用Gene Tool软件及分子生物学网站的信息分析检测数据。结果该家系先证者及其母亲COL1A1基因第40号外显子有两个碱基的缺失（c.2910_2911delAG）,导致COL1A1编码的蛋白质的翻译合成在第980位氨基酸提前终止。先证者父亲无此突变。结论该家系先证者及其母亲确定为由c.2910_2911delAG突变导致的Van der Hoeve综合征。与COL1A1基因突变数据库比对,该突变位点未曾报道过。

英文摘要：

Objective To identify mutation of the COL1A1 gene in a Chinese family with Van der Hoeve Syndrome. Methods Members of the Van der Hoeve family were interviewed and their medical histories collected. Genomic DNA was extracted from each individual and all exons of COL1A1 gene were sequenced. Data were analyzed with the GeneTool software. Results Sequencing of the COL1A1 gene in 2 patients （the proband and his mother） in this family revealed a deletion of 2 bps in exon 40 （c.2910_2911delAG）, which created a premature stop codon at the 980th amino acid. The mutation was not detected in the proband ’s father. Conclusion The detected c.2910_2911delAG mutation in COL1A1 gene is likely the causative defect in this Van der Hoeve Syndrome family. This mutation is novel , which has not yet been reported in the COL1A1 mutation database .