Autosomal recessive hypophosphatemic rickets 1 caused by DMP1 mutation: one pedigree study
10.3760/cma.j.cn311282-20200623-00461
- VernacularTitle: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
- Author:
Lihong GAO
1
;
Yu HU
;
Zhenlin ZHANG
Author Information
1. 复旦大学附属中山医院老年病科，上海 200032
- Keywords:
Autosomal recessive hypophosphatemic rickets 1;
Dental matrix protein 1;
Gene mutation
- From:
Chinese Journal of Endocrinology and Metabolism
2021;37(7):613-617
- CountryChina
- Language:Chinese
-
Abstract:
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.
