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<p>Dandy-Walker malformation (DWM) is a condition characterized by a cyst in the posterior cranial fossa contiguous with the fourth ventricle, combined with complete or partial agenesis of the cerebellar vermis; and elevation of the cerebellar tentorium, torcular Herophili, and transverse sinuses. DWM has been linked to specific genetic variants, with pathogenic or likely pathogenic variants reported in <i>FOXC1</i>, <i>ZIC1</i>, and <i>ZIC4</i>. Variants in the <i>TUBB2B</i> and <i>TUBB3</i> genes are associated with abnormalities in tubulin, leading to cerebellar hypoplasia. In our study, three patients diagnosed with DWM underwent whole-genome analysis using next-generation sequencing, and two were found to have heterozygous variants in the tubulinopathy-associated genes <i>TUBB2B</i> and <i>TUBB3</i>, respectively. These findings indicate that some cases previously diagnosed as DWM may fall under the spectrum of tubulinopathies associated with cerebellar hypoplasia.</p>

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Identification of tubulin gene variants in patients with dandy-walker malformation: expanding the spectrum of tubulinopathies

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2026年6月17日

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  • Katsuya Ueno,
  • Koichiro Higasa,
  • Mikio Hayashi,
  • Haruna Isozaki,
  • Mayuko Miyata,
  • Nobuaki Naito,
  • Yi Li,
  • Junichi Takeda,
  • Masahiro Nonaka

摘要

Dandy-Walker malformation (DWM) is a condition characterized by a cyst in the posterior cranial fossa contiguous with the fourth ventricle, combined with complete or partial agenesis of the cerebellar vermis; and elevation of the cerebellar tentorium, torcular Herophili, and transverse sinuses. DWM has been linked to specific genetic variants, with pathogenic or likely pathogenic variants reported in FOXC1, ZIC1, and ZIC4. Variants in the TUBB2B and TUBB3 genes are associated with abnormalities in tubulin, leading to cerebellar hypoplasia. In our study, three patients diagnosed with DWM underwent whole-genome analysis using next-generation sequencing, and two were found to have heterozygous variants in the tubulinopathy-associated genes TUBB2B and TUBB3, respectively. These findings indicate that some cases previously diagnosed as DWM may fall under the spectrum of tubulinopathies associated with cerebellar hypoplasia.