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<p>Microcephaly with or without chorioretinopathy, lymphedema or mental retardation is a rare KIF11-related disorder. Here we report the case of a patient with microcephaly, lymphedema, nystagmus and familial exudative vitreoretinopathy carrying a novel de novo <i>KIF11</i> nonsense variant (NM_004523.4:p.Glu123Ter), which is considered pathogenic. This case expands the phenotypic range of <i>KIF11</i> pathogenic variants and highlights the importance of early ophthalmological evaluation, genetic counseling and family assessment.</p>

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Novel nonsense variant of KIF11 in a patient with MCLMR

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2026年3月2日

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  • Yuko Ozaki,
  • Kyoko Yokoi,
  • Yasuhisa Nakamura,
  • Masanori Fujimoto,
  • Risako Ishioka,
  • Kozue Kasukabe,
  • Takenori Kato,
  • Shinji Saitoh

摘要

Microcephaly with or without chorioretinopathy, lymphedema or mental retardation is a rare KIF11-related disorder. Here we report the case of a patient with microcephaly, lymphedema, nystagmus and familial exudative vitreoretinopathy carrying a novel de novo KIF11 nonsense variant (NM_004523.4:p.Glu123Ter), which is considered pathogenic. This case expands the phenotypic range of KIF11 pathogenic variants and highlights the importance of early ophthalmological evaluation, genetic counseling and family assessment.