Two novel PHEX mutations in Taiwanese patients with X-linked hypophosphatemic rickets
Two novel PHEX mutations in Taiwanese patients with X-linked hypophosphatemic rickets
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DOI：
10.1159/000092916
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发表时间：
2006-01-01
影响因子：
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通讯作者：
Van, Yang-Hau
中科院分区：
文献类型：
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作者：
Lo, Fu-Sung;Kuo, Min-Tzu;Van, Yang-Hau
背景：X连锁低磷血症性软骨病是一种X连锁显性遗传性疾病，以肾脏磷酸盐消耗、低磷血症、维生素D代谢异常和骨矿化缺陷为特征。这种疾病是由位于Xp22.1的PHEX基因(与X染色体上的内肽酶同源的磷酸调节基因)突变引起的。到目前为止，已经在这些患者中发现了各种PHEX突变。方法：对两个XLH家系的PHEX基因的所有外显子和内含子-外显子边界进行了聚合酶链式反应和直接测序。结果：发现了2个新的突变，包括第5外显子的错义突变(L206W)和第18外显子的移码突变(1826_1830delAAAAG，密码子610后停止)，并分析了这些患者的实验室和X线表现。结论：我们发现在这些台湾患者中，PHEX基因突变是导致XLH的原因。需要更多的研究来加强对PHEX在XLH发病机制中的作用的了解。版权所有(C)2006 S.Karger AG，巴塞尔。
Backgrounds: X-linked hypophosphatemic rickets (XLH) is an X-linked dominant disease characterized by renal phosphate wasting, hypophosphatemia, aberrant vitamin D metabolism, and defective bone mineralization. The disease is caused by mutations in the PHEX gene (phosphate-regulating gene with homologies to endopeptidases on the X-chromosome) located at Xp22.1. To date, a variety of PHEX mutations have been identified in these patients. Methods: PCR and direct sequencing was performed for all exons and intron-exon boundaries of the PHEX gene in two XLH families. Results: Two novel mutations, including a missense mutation (L206W) in exon 5 and a frameshift mutation (nucleotide 1826_1830delAAAAG, stop after codon 610) in exon 18 were discovered and the laboratory and radiographic findings for these patients analyzed. Conclusions: We found that PHEX gene mutations were responsible for XLH in these Taiwanese patients. Additional studies are needed to enhance understanding of the role of PHEX in XLH pathogenesis. Copyright (c) 2006 S. Karger AG, Basel.