Functional and clinical evidence for two novel heterozygous BUB1B variants and their value in precision genetic counseling for recurrent pregnancy loss - Takeaways - MDSpire

Functional and clinical evidence for two novel heterozygous BUB1B variants and their value in precision genetic counseling for recurrent pregnancy loss

  • By

  • Tian-ying Wei

  • Ming-xian Kang

  • Ge-han Zhang

  • Jing Zhang

  • Jia-en Liu

  • Jing Ma

  • Ya-ping Tian

  • Hua-ying Hu

  • June 26, 2026

  • 0 min

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  • 1

    Two novel heterozygous BUB1B variants, c.2164T>C (p.W722R) and c.2215G>T (p.A739S), were identified in families with recurrent pregnancy loss.

  • 2

    Cytogenetic analysis showed significantly elevated premature chromatid separation rates in lymphocytes of probands compared to healthy controls.

  • 3

    The identified BUB1B variants were classified as variants of uncertain significance according to ACMG/AMP guidelines.

  • 4

    A trend toward reduced BUB1B mRNA and BUBR1 protein expression was observed in both variant carriers, suggesting a haploinsufficiency mechanism.

  • 5

    This study provides evidence linking heterozygous BUB1B variants to impaired spindle assembly checkpoint function and recurrent embryonic aneuploidy.

Original Source(s)

Functional and clinical evidence for two novel heterozygous BUB1B variants and their value in precision genetic counseling for recurrent pregnancy loss

  • by Tian-ying Wei, Ming-xian Kang, Ge-han Zhang, Jing Zhang, Jia-en Liu, Jing Ma, Ya-ping Tian, Hua-ying Hu

  • June 26, 2026

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