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首页> 外文期刊>Bone >Clinical and genetic analysis in a large Chinese cohort of patients with X-linked hypophosphatemia
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Clinical and genetic analysis in a large Chinese cohort of patients with X-linked hypophosphatemia

机译：中国X型次磷血症患者大型中国群体的临床和遗传分析

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摘要

X-linked Hypophosphatemia (XLH) is caused by loss of function mutations in the PHEX gene. Given the recent availability of a new therapy for XLH, a retrospective analysis of the most recent 261 Chinese patients with XLH evaluated at Peking Union Medical College Hospital was conducted. Clinical, biochemical, radiographic studies, as well as genetic analyses, including Sanger sequencing for point mutations and Multiplex Ligation-dependent Probe Amplification (MLPA) to detect large deletions/duplications were employed. Based on the structure of Neprilysin (NEP), a member of M13 family that includes PHEX, a three-dimensional (3D) model of PHEX was constructed, missense and nonsense mutations were positioned on the predicted structure to visualize relative positions of these two types of variants. Sex differences and genotype-phenotype correlations were also undertaken.
机译：X连接的次磷血症（XLH）是由PHEX基因中的功能突变丧失引起的。 鉴于最近对XLH的新疗法进行了新的疗法，对北京联盟医院医院评估了最近261名中国XLH患者的回顾性分析。 采用临床，生化，放射线研究，以及遗传分析，包括桑克斯突变和多重连接依赖性探针扩增（MLPA）以检测大缺失/重复。 基于Nepilysin（NEP）的结构，构建了包括PHEX的M13系列的成员，构建了一种PHEX的三维（3D）模型，定位在预测结构上以可视化这两种类型的相对位置 变体。 还进行了性差异和基因型表型相关性。

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  • 来源
    《Bone》 |2019年第2019期|共9页
  • 作者

    Zhang Cong; Zhao Zhen; Sun Yue; Xu Lijun; JiaJue Ruizhi; Cui Lijia; Pang Qianqian; Jiang Yan; Li Mei; Wang Ou; He Xiaodong; He Shuli; Nie Min; Xing Xiaoping; Meng Xunwu; Zhou Xueying; Yan Lina; Kaplan Jared M.; Insogna Karl L.; Xia Weibo;

  • 作者单位

    Chinese Acad Med Sci Peking Union Med Coll Hosp Minist Hlth Dept Endocrinol Key Lab Endocrinol;

    Chinese Acad Med Sci Peking Union Med Coll Hosp Minist Hlth Dept Endocrinol Key Lab Endocrinol;

    Chinese Acad Med Sci Peking Union Med Coll Hosp Minist Hlth Dept Endocrinol Key Lab Endocrinol;

    Chinese Acad Med Sci Peking Union Med Coll Hosp Minist Hlth Dept Endocrinol Key Lab Endocrinol;

    Chinese Acad Med Sci Peking Union Med Coll Hosp Minist Hlth Dept Endocrinol Key Lab Endocrinol;

    Chinese Acad Med Sci Peking Union Med Coll Hosp Minist Hlth Dept Endocrinol Key Lab Endocrinol;

    Chinese Acad Med Sci Peking Union Med Coll Hosp Minist Hlth Dept Endocrinol Key Lab Endocrinol;

    Chinese Acad Med Sci Peking Union Med Coll Hosp Minist Hlth Dept Endocrinol Key Lab Endocrinol;

    Chinese Acad Med Sci Peking Union Med Coll Hosp Minist Hlth Dept Endocrinol Key Lab Endocrinol;

    Chinese Acad Med Sci Peking Union Med Coll Hosp Minist Hlth Dept Endocrinol Key Lab Endocrinol;

    Chinese Acad Med Sci Peking Union Med Coll Hosp Minist Hlth Dept Endocrinol Key Lab Endocrinol;

    Chinese Acad Med Sci Peking Union Med Coll Hosp Minist Hlth Dept Endocrinol Key Lab Endocrinol;

    Chinese Acad Med Sci Peking Union Med Coll Hosp Minist Hlth Dept Endocrinol Key Lab Endocrinol;

    Chinese Acad Med Sci Peking Union Med Coll Hosp Minist Hlth Dept Endocrinol Key Lab Endocrinol;

    Chinese Acad Med Sci Peking Union Med Coll Hosp Minist Hlth Dept Endocrinol Key Lab Endocrinol;

    Chinese Acad Med Sci Peking Union Med Coll Hosp Minist Hlth Dept Endocrinol Key Lab Endocrinol;

    Baogang Hosp Dept Endocrinol Baotou 014000 Inner Mongolia Peoples R China;

    Yale Sch Med Sect Endocrinol Dept Med New Haven CT USA;

    Yale Sch Med Sect Endocrinol Dept Med New Haven CT USA;

    Chinese Acad Med Sci Peking Union Med Coll Hosp Minist Hlth Dept Endocrinol Key Lab Endocrinol;

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  • 原文格式 PDF
  • 正文语种 eng
  • 中图分类 骨科学（运动系疾病、矫形外科学）;
  • 关键词

    X-linked hypophosphatemia (XLH); PHEX; Genetic analysis; Sex difference; Genotype-phenotype correlation; 3D model of PHEX;

    机译：X链次磷血症（XLH）;PHEX;遗传分析;性别差异;基因型 - 表型相关;3D PHEX模型;

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