| 摘要: |
| ［摘要］ 目的 报告颅骨锁骨发育不全（CCD）患儿1例的RUNX2基因突变检测情况。方法 患儿临床查体后进行临床及影像学检查，明确诊断为CCD。提取患者全血基因组DNA送第三方检测机构（金域医学检验中心），通过高通量基因测序检测患儿RUNX2基因型。结果 患者RUNX2基因型为c.201dupG p.(Gln68fs)。结论 成功发现了RUNX2基因的致病突变，补充了国内外CCD致病基因的突变位点数据库。 |
| 关键词: 颅骨锁骨发育不全 RUNX2 突变 |
| DOI：10.3969/j.issn.1674-3806.2019.03.16 |
| 分类号:R 726 |
| 基金项目: |
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| Neonatal cleidocranial dysplasia and mutation of RUNX2 gene in 1 case and literature review |
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LI Rui, KANG Wen-qing, JIN Juan, et al.
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Neonatal Intensive Care Unit, Children′s Hospital Affiliated to Zhengzhou University, Henan Children′s Hospital, Zhengzhou Children′s Hospital, Henan 450018, China
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| Abstract: |
| ［Abstract］ Objective To study the mutation of RUNX2 gene in a neonate with cleidocranial dysplasia(CCD). Methods The clinical and imaging examinations of the neonate with CCD were performed after physical examination, and the diagnosis was confirmed as clavicular dysplasia of the skull. The genomic DNA of the whole blood was extracted and sent to the third party（KingMed Diagnostics） for detection, and the genotype of RUNX2 was detected by high-throughput genome sequencing. Results The mutant type of RUNX2 gene in the patient was c.201dupG P.(Gln68fs). Conclusion A pathogenic mutation of RUNX2 is found successfully, which supplements the gene mutation database of CCD. |
| Key words: Cleidocranial dysplasia(CCD) Runt-related transcription factor 2(RUNX2) Mutation |
