Article
The contribution of a novel PHEX gene mutation to X-linked hypophosphatemic rickets: a case report and an analysis of the gene mutation dosage effect in a rat model.
Frontiers in endocrinology - 1 Jan 2023
Chen Xiaoming, Cai Cijing, Lun Shaocong, Ye Qiuli, Pan Weiyuan, Chen Yushi, Wu Yuexuan, Feng Taoshan, Su Faming, Ma Choudi, Luo Jiaxin, Liu Meilian, Ma Guoda
Abstract excerpt
A Chinese family was identified to have two patients with rickets, an adult female and a male child (proband), both exhibiting signs related to X-linked hypophosphatemic rickets (XLH). Gene sequencing analysis revealed a deletion of adenine at position 1985 (c.1985delA) in the PHEX-encoding gene. To investigate the relationship between this mutation and the pathogenicity of XLH, as well as analyze the effects of...
Topics
- Animals
- Female
- Male
- Rats
- Familial Hypophosphatemic Rickets
- Genotype
- Mutation
- Pedigree
- PHEX Phosphate Regulating Neutral Endopeptidase
- Phosphorus