一类脂蛋白沉积症家系ECM1基因突变检测

Mutation analysis of the ECM1 gene in a Chinese family with lipoid proteinosis

目的:报道1例类脂蛋白沉积症家系,并对其家系成员的细胞外基质蛋白1(ECM1)基因突变进行分析。方法:PCR,DNA直接测序以及RFLP对患者的ECM1编码区进行了基因突变分析。结果:先证者及其胞姐在ECM1基因6号染色体上均发现纯合性单核苷酸颠换c.658T>G,产生纯合错义突变p.C220G。该家系中父母二人均为此突变的杂合子,该突变在100个非相关对照中未被检测出。结论:p.C220G突变是引起该家系临床病变的特异突变,不是多态性变化。

Objective： A Chinese family with lipoid proteinosis is reported and glycoprotein extracellular matrix protein 1 （ECM1） was identified. Methods： Polymerase chain reaction （PCR）, DNA direct nucleotide squencing and RFLP were used in mutation analysis. Results： Both affected siblings were shown to have a novel homozygous single nucleotide substitution, c, 658T 〉 G, in exon 6, which converts cysteine to glycine, designated p. C220G. Both parents were heterozygous for this mutation, which was not detected in 100 unrelated healthy controls. Conclusion： The mutation C220G is the underlying cause of lipoid proteinosis in this family, not due to common polymorphism.