7例肝豆状核变性患儿ATP7B基因突变的检测与分析

Identification and analysis of ATP7B gene mutation in 7 patients with hepatolenticular degeneration

目的探讨肝豆状核变性患儿ATP7B基因全长外显子基因突变类型及其与临床表型的相关性。方法对7例肝豆状核变性患儿的ATP7B基因进行全外显子检测。结果 7例肝豆状核变性患儿中1例ATP7B基因未检测出突变,6例检测出6种突变,分别为R778L、G711W、N1270S、A887LfsX14、del930I、V1121A,R778L和V1121A检出率为28.6%,其他突变检出率均为14.2%。结论肝豆状核变性患儿ATP7B基因突变呈多样性,R778L突变与临床表型不存在明确相关性。

Objective To explore the mutations of ATP7 Bgene and the relationship between the genotype and clinical phenotype in patients with hepatolenticular degeneration（HLD）.Methods The clinical data of 7 patients with HLD were retrospectively analyzed.Mutation of ATP7 Bgene coding regions was detected by sequencing.Results In 7 patients with HLD,no mutation was identified in 1 patient,and 6 different gene mutations（R778L,G771 W,N1270S,A887LfsX14,del930 I,V1121A）were found in the other 6 patients.The mutations frequency was 28.6% for R778 Land V1121A,and 14.2% for the others.Conclusion The mutation of ATP7 Bgene in patients with HLD is multifarious,and R778 L mutation is not correlated with the clinical phenotype.