Objective To analyze PHEX gene mutations in 2 cases from 1 family of Xlinked hypophosphatemia rickets (XLH), explore its pathogenic mechanism, retrospectively analyze clinical data, and provide evidence for early diagnosis and treatment of XLH. Methods The data of 2 patients with XLH in a family were collected and analyzed retrospectively.The mutation of PHEX gene was obtained by whole exome sequencing and compared with relevant databases. The mutation gene was verified by qPCR.Results The 2 patients in this family all had PHEX gene copy number variants (CNVs), PHEX Exon1011 del, proband Ⅱ:1 were hemizygous mutations, and patients Ⅱ:2 were heterozygous mutations. After treatment with phosphate and calcitriol, the height SDS of the proband Ⅱ:1 increased from 〖CD*3/5〗5.6SD to 〖CD*3/5〗2.8 SD, and the height SDS of patient Ⅱ:2 increased from 5 SD to 〖CD*3/5〗2.3 SD. Conclusion PHEX Exon1011 del mutation is the main cause of this XLH family. The phosphate and calcitriol treatment for children can achieve good results.