台湾X连锁低磷性佝偻病患者中的两种新型PHEX突变。
Two novel PHEX mutations in Taiwanese patients with X-linked hypophosphatemic rickets.
作者信息
Lo Fu-Sung, Kuo Min-Tzu, Wang Chao-Jan, Chang Chia-Hsieh, Lee Zhon-Liau, Van Yang-Hau
机构信息
Department of Pediatrics, Division of Endocrinology, Chang Gung Children Hospital, Kweishan, Taoyuan, Taiwan.
出版信息
Nephron Physiol. 2006;103(4):p157-63. doi: 10.1159/000092916. Epub 2006 Apr 24.
BACKGROUND
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.
背景
X连锁低磷性佝偻病（XLH）是一种X连锁显性疾病，其特征为肾性磷酸盐流失、低磷血症、异常的维生素D代谢及骨矿化缺陷。该疾病由位于Xp22.1的PHEX基因（与X染色体上的内肽酶具有同源性的磷酸盐调节基因）突变引起。迄今为止，已在这些患者中鉴定出多种PHEX突变。
方法
对两个XLH家族的PHEX基因的所有外显子和内含子-外显子边界进行聚合酶链反应（PCR）和直接测序。
结果
发现了两个新突变，包括外显子5中的错义突变（L206W）和外显子18中的移码突变（核苷酸1826_1830delAAAAG，在密码子610后终止），并对这些患者的实验室检查和影像学检查结果进行了分析。
结论
我们发现PHEX基因突变是这些台湾患者XLH的病因。需要进一步研究以加深对PHEX在XLH发病机制中作用的理解。
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