CLCN7基因新突变致常染色体显性遗传骨硬化症2型一个家系报告

Autosomal dominant osteopetrosisⅡcaused by novel CLCN7 mutation:a family report

报告并分析一个常染色体显性遗传骨硬化症2型家系的临床特征、影像表现和基因诊断。该家系中先证者及其父亲临床症状均表现为腰痛,X片呈典型骨硬化改变,基因检测结果显示患者及其父亲氯化物通道7(chloride channel 7,CLCN7)基因存在两处未报道过的新的杂合缺失变异,分别为c.2043_2073+5del及22~23号外显子区域0.373 kb的缺失(chr16:1497372-1497745)。先证者母亲临床表型正常,未检测到CLCN7基因变异。突变符合常染色体显性遗传模式。本研究报告了CLCN7基因新变异导致的一个常染色体显性遗传性骨硬化症2型家系,扩展了CLCN7基因变异谱。

The article reports the clinical manifestations,imaging features and genetic diagnosis of a family with autosomal dominant osteopetrosisⅡ.The proband and her father both had low back pain and typical osteosclerosis on X-rays.Genetic test results of the patient and her father showed that two novel mutations occurred in the gene encoding chloride channel 7(CLCN7),including a heterozygous deletion variant c.2043_2073+5del and a 0.373 kb heterozygous deletion variant chr16:1497372-1497745 in exon 22-23.Her mother had normal clinical manifestations and no sequence variants were detected.The mutations consistented with the autosomal dominant inheritance.The novel CLCN7 mutations were identified in a family with autosomal dominant osteopetrosisⅡ,which expanded the CLCN7 gene variant spectrum.