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  • Title: [Gene mutation analysis of X-linked hypophosphatemic rickets].
    Author: Song Y, Ma HW, Li F, Hu M, Ren S, Yu YF, Zhao GJ.
    Journal: Zhongguo Dang Dai Er Ke Za Zhi; 2013 Nov; 15(11):928-31. PubMed ID: 24229582.
    Abstract:
    OBJECTIVE: To investigate the frequency and type of PHEX gene mutations in children with X-linked hypophosphatemic rickets (XLH), the possible presence of mutational hot spots, and the relationship between genotype and clinical phenotype. METHODS: Clinical data of 10 children with XLH was retrospectively reviewed. The relationship between gene mutation type and severity of XLH was evaluated. RESULTS: PHEX gene mutations were detected in all 10 children with XLH, including 6 cases of missense mutation, 2 cases of splice site mutation, 1 case of frameshift mutation, and 1 case of nonsense mutation. Two new mutations, c.2048T>C and IVS14+1delAG, were found. The type of PHEX gene mutation was not associated with the degree of short stature and leg deformity (P=0.571 and 0.467), and the mutation site was also not associated with the degree of short stature and leg deformity (P=0.400 and 1.000). CONCLUSIONS: Missense mutation is the most common type of PHEX gene mutation in children with XLH, and c.2048T>C and IVS14+1delAG are two new PHEX gene mutations. The type and site of PHEX gene mutation are not associated with the severity of XLH.
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