Case Report: A case of Rothmund–Thomson syndrome-like phenotype with an ANAPC1 variant of uncertain significance and observed hair improvement - Takeaways - MDSpire

Case Report: A case of Rothmund–Thomson syndrome-like phenotype with an ANAPC1 variant of uncertain significance and observed hair improvement

  • By

  • Chuhan Huang

  • Qingwu Liu

  • Dingquan Yang

  • May 13, 2026

  • 0 min

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  • 1

    Rothmund–Thomson syndrome (RTS) is linked to RECQL4 mutations, but some cases lack these variants, indicating genetic diversity.

  • 2

    The patient, a 29-year-old male, exhibited RTS-like symptoms, including hypotrichosis, malar erythema, and dental irregularities.

  • 3

    Whole-exome sequencing identified a heterozygous ANAPC1 variant of uncertain significance, with no pathogenic variants found in other genes.

  • 4

    Combination therapy led to significant hair density and shaft thickness improvement after six months of treatment.

  • 5

    The findings suggest a potential phenotypic broadening associated with ANAPC1, highlighting the need for further functional validation.

Original Source(s)

Case Report: A case of Rothmund–Thomson syndrome-like phenotype with an ANAPC1 variant of uncertain significance and observed hair improvement

  • by Chuhan Huang, Qingwu Liu, Dingquan Yang

  • May 13, 2026

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