Department of Medicine, University of Texas Health Science Center at Houston, TX 77030, USA.
Clin Endocrinol (Oxf). 2011 Mar;74(3):312-8. doi: 10.1111/j.1365-2265.2010.03919.x.
X-linked hypophosphatemic rickets, autosomal dominant hypophosphatemic rickets and autosomal recessive hypophosphatemic rickets make up a group of renal phosphate wasting disorders with common clinical and biochemical characteristics. These three types of rickets are related to mutations in PHEX, FGF23 and dentin matrix protein 1 (DMP1), respectively.
The objective of the study was to evaluate the frequency of mutations that occur in these three genes associated with hypophosphatemic rickets.
In this study, we sequenced these genes in 76 members of 46 kindreds from a large hypophosphatemic rickets cohort.
Forty-two individuals from 27 kindreds were found to have mutations in PHEX; 16 of which were novel. One subject had an FGF23 mutation. No individuals were found to have mutations in DMP1 consistent with the presence of recessive hypophosphatemic rickets.
Our data highlight the wide spectrum of genetic variation that can be seen in PHEX, FGF23 and DMP1 when screening a large cohort with hypophosphatemic rickets.
X 连锁低磷血症性佝偻病、常染色体显性低磷血症性佝偻病和常染色体隐性低磷血症性佝偻病构成了一组具有共同临床和生化特征的肾脏磷丢失性疾病。这三种佝偻病分别与 PHEX、FGF23 和牙本质基质蛋白 1（DMP1）的突变有关。
本研究旨在评估与低磷血症性佝偻病相关的这三个基因发生突变的频率。
在这项研究中，我们对来自一个大型低磷血症性佝偻病队列的 46 个家系的 76 名成员进行了这些基因的测序。
在 27 个家系的 42 名个体中发现了 PHEX 基因突变；其中 16 个是新的。一个患者存在 FGF23 突变。没有发现与常染色体隐性低磷血症性佝偻病一致的 DMP1 基因突变。
我们的数据突出显示了在筛查大型低磷血症性佝偻病队列时，可以在 PHEX、FGF23 和 DMP1 中看到广泛的遗传变异。
