A Girl with a Novel Splice Site Mutation in VDR Supports the Role of a Ligand-Independent VDR Function on Hair Cycling

    January 2006 in “ Hormone Research in Paediatrics ”
    Paravee Katavetin, Pisut Katavetin, Suttipong Wacharasindhu, Vorasuk Shotelersuk, Paravee Katavetin, Pisut Katavetin, Suttipong Wacharasindhu, Vorasuk Shotelersuk
    TLDR A mutation in the VDR gene affects hair cycling without needing ligand binding.
    A study reported a Thai girl with hereditary vitamin D resistant rickets (HVDRR) and partial alopecia, caused by a novel splice site mutation in the vitamin D receptor (VDR) gene. The mutation, 462 + 1 G → C, led to the inclusion of an entire intron into the mRNA, resulting in a protein lacking a ligand-binding domain. Despite this, the girl did not develop total alopecia, suggesting that the VDR's role in hair cycling was independent of ligand binding.
    Discuss this study in the Community →

    Research cited in this study

    4 / 4 results