|
| 一例Ⅱ型常染色体显性骨硬化症患者CLCN7基因突变分析 |
| Analysis of chloride channel protein 7 gene mutation in a patient with type II autosomal osteopetrosis |
| |
| DOI：10.3969/j.issn.1006-7108.2021.03.018 |
| 中文关键词: 骨硬化症 Ⅱ型常染色体显性骨硬化症 氯离子通道蛋白7 |
| 英文关键词:osteopetrosis ADO Ⅱ CLCN7 |
| 基金项目:国家自然科学基金面上项目（8187062，81991513）；创伤、烧伤与复合伤国家重点实验室优秀青年基金[ SKLZZ（Ⅲ）201601] |
|
| 摘要点击次数: 411 |
| 全文下载次数: 285 |
| 中文摘要: |
| 目的 探讨1例Ⅱ型常染色体显性遗传骨硬化症(autosomal dominant osteopetrosis，ADO）患者的氯离子通道7基因(chloride channel 7，CLCN7)的突变情况。方法 纳入1例骨硬化青年女性患者。采用骨密度检测、X线成像等临床手段对其临床表现进行分析；并对患者及其父亲的CLCN7基因进行外显子测序，从正常人DNA样本库中随机挑选50个样本进行CLCN7基因外显子测序来对比分析测序结果。结果 X线片显示椎体骨密度增加，成“夹心饼”样；髋部和股骨骨密度增加，盆骨出现“骨中骨”现象。骨密度结果显示腰椎1-4 Z值为13，股骨颈Z值为7.8，全髋Z值为10，患者骨骼呈骨硬化表现，测序结果显示9号外显子上发生错义突变（纯合突变），导致C.746 C>T (p.Pro249Leu)；其父亲和50个对照样本均无此突变。结论 此患者为CLCN7基因c.746C>T（p.Pro249Leu）纯合错义突变的ADO Ⅱ型常染色体显性骨硬化症。 |
| 英文摘要: |
| Objective To detect the mutation of chloride channel 7 (CLCN7) gene in a patient with type II autosomal osteopetrosis (ADO II). Methods A young woman with osteopetrosis was enrolled in this study. Bone mineral density (BMD) and X-ray were analyzed to detect the clinical features. The whole-exome sequencing of CLCN7 gene of the patient and her father was performed. Fifty samples were randomly selected from the normal human DNA sample library for CLCN7 gene exon sequencing to compare and analyze the sequencing results. Results X-ray of the patient showed that BMD of the vertebrae increased, with sandwich sign. BMD of the hip and the femur increased, with bone-in-bone. BMD results showed that the Z scores of the lumbar spine, the femoral neck, and total hip were 13, 7.8, and 10, respectively. The bones of the patient appeared osteopetortic feature. Sequencing results showed that a missense mutation (homozygous mutation) occurred in exon 9 of CLCN7 gene, resulting in C.746 C>T (p.Pro249Leu). No mutation occurred in her father and 50 control samples. Conclusion This patient is an ADO type II autosomal dominant osteopetrosis with CLCN7 gene c.746C>T(p.Pro249Leu) homozygous missense mutation. |
| 查看全文 查看/发表评论 下载PDF阅读器 |
| 关闭 |