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Novel Vitamin D Receptor Mutations in Hereditary Vitamin D Resistant Rickets in Chinese.

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اقرأ على الانترنت اقرأ أكثر حفظ في قائمتي
  • معلومة اضافية
    • المصدر:
      Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: eCollection Cited Medium: Internet ISSN: 1932-6203 (Electronic) Linking ISSN: 19326203 NLM ISO Abbreviation: PLoS One Subsets: MEDLINE
    • بيانات النشر:
      Original Publication: San Francisco, CA : Public Library of Science
    • الموضوع:
      Alleles* ; Heterozygote* ; Mutation*; Drug Resistance/*genetics ; Receptors, Calcitriol/*genetics ; Rickets/*genetics; Animals ; Asian People ; COS Cells ; China ; Chlorocebus aethiops ; Female ; HEK293 Cells ; Humans ; Infant ; Male ; Vitamin D/pharmacology
    • نبذة مختصرة :
      Hereditary 1, 25-dihydroxyvitamin D-resistant rickets (HVDRR), a rare recessive disease, is caused by mutation in the VDR gene encoding the vitamin D receptor leading to the resistance to vitamin D. We described a female toddler with initial presentation of leg tenderness and clinical features of HVDRR including severe rickets, hypocalcemia and hypophosphatemia without alopecia. Genetic analysis revealed novel compound heterozygous mutations of p.M4I and p.H229Q in patient's VDR gene. In cis p.M4I with FOKI-F eliminated both translation start sites of the VDR protein. The p.H229Q VDR exhibited significantly reduced VDR transactivation activity with intact dimerization with RXR. Our report expanded the mutation spectrum of HVDRR, and provided the first case of a benign variant p.M4I plus a common p.M1T polymorphism leading to a pathogenic allele.
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    • Grant Information:
      R01 DK078965 United States DK NIDDK NIH HHS; R01 HL093269 United States HL NHLBI NIH HHS; HL093269 United States HL NHLBI NIH HHS
    • الرقم المعرف:
      0 (Receptors, Calcitriol)
      1406-16-2 (Vitamin D)
    • الموضوع:
      Date Created: 20151001 Date Completed: 20160527 Latest Revision: 20221207
    • الموضوع:
      20231215
    • الرقم المعرف:
      PMC4589239
    • الرقم المعرف:
      10.1371/journal.pone.0138152
    • الرقم المعرف:
      26422470