Case Report: A novel PTHLH nonsense variant in a mother–son pair with brachydactyly type E and short stature, with a genotype–stature review - Takeaways - MDSpire

Case Report: A novel PTHLH nonsense variant in a mother–son pair with brachydactyly type E and short stature, with a genotype–stature review

  • By

  • Hui Huang

  • Binyang Zhu

  • Zaisheng Wang

  • Zhuqiang Wu

  • Jinqiu Rao

  • Yu Yang

  • Xiangyu Xiong

  • July 17, 2026

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  • 1

    A mother-son pair with brachydactyly type E and short stature was identified, linked to a novel heterozygous nonsense variant in PTHLH.

  • 2

    The proband, a 7-year-8-month-old boy, exhibited short stature, brachydactyly, mild developmental delay, and distinct craniofacial features.

  • 3

    Radiographic findings revealed generalized shortening of metacarpals, metatarsals, phalanges, premature epiphyseal fusion, and metaphyseal widening.

  • 4

    Trio whole-exome sequencing confirmed the PTHLH variant c.82G>T, p.(Glu28Ter), which segregated with the affected mother.

  • 5

    The study highlights the variability of short stature in PTHLH-associated brachydactyly type E and the need for molecular testing in such cases.

Original Source(s)

Case Report: A novel PTHLH nonsense variant in a mother–son pair with brachydactyly type E and short stature, with a genotype–stature review

  • by Hui Huang, Binyang Zhu, Zaisheng Wang, Zhuqiang Wu, Jinqiu Rao, Yu Yang, Xiangyu Xiong

  • July 17, 2026

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