DMP1基因突变导致常染色体隐性遗传性低血磷性佝偻病1型一家系研究

Autosomal recessive hypophosphatemic rickets 1 caused by DMP1 mutation:one pedigree study

本研究对1例由牙基质蛋白1(dentin matrix protein 1,DMP1)突变引起常染色体隐性遗传性低血磷性佝偻病1型(autosomal recessive hypophosphatemic rickets 1,ARHR1)先证者及家系成员的临床特征进行分析,采集外周血进行DMP1基因全编码外显子测序,并在家庭成员及250名健康对照人群中进行已知突变位点的测序验证。该先证者为42岁女性,双下肢骨骼畸形伴骨痛、身材矮小。影像学及实验室检查符合低血磷性佝偻病表现,Sanger测序证实先证者DMP1基因2号外显子起始密码子处存在纯合突变(c.2T>C),遗传方式符合常染色体隐性遗传,其子女为该基因突变携带者。

In the present study,the clinical features of a patient with autosomal recessive hypophosphatemic rickets 1 caused by dentin matrix protein 1(DMP1)gene mutation and her family members were investigated.DMP1 gene from peripheral blood was sequenced by Sanger sequencing,and the known mutation was verified among her family members and 250 healthy populations.The proband was a 42-year-old female with bone deformity of both lower limbs,bone pain,and short stature.The results of X-rays and laboratory examination were consistent with the hypophosphatemic rickets reported before.A homozygous mutation(c.2T>C)in DMP1 was identified by Sanger sequencing in the proband,her son and daughter were heterozygous for c.2T>C.