摘要
目的分析1例X连锁低磷血症性佝偻病(XLH)病人遗传学改变及其基因型表型。方法对1例散发性低磷血症性佝偻病病人进行全外显子组测序(WES)分析,找出致病基因突变位点,结合病人临床表现进行基因型和表型的分析。对先证者及其同胞进行Sanger测序验证。结果实验室检查显示,先证者血清磷降低,碱性磷酸酶升高,甲状旁腺激素升高;X射线及磁共振成像检查显示,病人下肢严重内翻畸形,胸椎管狭窄,腰椎间盘突出及胸腰椎退行性病变。测序结果显示,先证者PHEX基因的第15内含子发现一个异常剪接位点的杂合突变c.1646-2A>G,其同胞未发现该位点的突变。因此,先证者被诊断为XLH。结论本研究发现了1例XLH病人PHEX基因剪接位点突变,有助于了解和完善中国XLH病人的遗传学基础。
Objective To analyze the genetic change,genotype,and phenotype of a patient with X-linked hypophosphatemic rickets(XLH).Methods A case of sporadic hypophosphatemic rickets was analyzed by whole exome sequencing to identify the mutation site of the disease gene,and the genotyping and phenotypic analysis were performed in combination with the clinical manifestations of the patient.The proband and her siblings were validated by Sanger sequencing.Results Laboratory examinations for the proband showed a decrease in phosphorus and an increase in alkaline phosphatase and parathyroid hormone in the serum.Radiological examinations(X-ray,and magnetic resonance imaging)revealed severe varus deformity of the lower limbs,thoracic spinal stenosis,lumbar disc herniation,and thoracolumbar degenerative disease.Sequencing results showed that an abnormal heterozygous mutation at the splice site c.1646-2A>G was identified at the intron 15 of the PHEX gene in the proband,which was not found in her siblings.Therefore,the proband was diagnosed as having XLH.Conclusion In this study,a splice site mutation in the PHEX gene has been identified in a patient with XLH,which is helpful to understand and improve the genetic basis of XLH patients in China.
作者
杨一凡
王亭
刘世国
李冰
YANG Yifan;WANG Ting;LIU Shiguo;LI Bing(Department of Biology,School of Basic Medicine,Qingdao University,Qingdao 266071,China)
出处
《青岛大学学报（医学版）》
CAS
2022年第5期639-642,共4页
Journal of Qingdao University(Medical Sciences)
基金
国家重点研发计划资助项目(2016YFC1000306)。
关键词
家族性低血磷性佝偻病
全外显子组测序
X染色体上内肽酶同源磷调节基因
DNA突变分析
familial hypophosphatemic rickets
whole exome sequencing
phosphate-regulating gene with homologies to endopeptidase on the X chromosome
DNA mutational analysis
