Evidence map›Paper›PMID 42310787›Full record

ArticleMolecular cytogenetics2026

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

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

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Article in Molecular cytogenetics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

What it found

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2 · The registry

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3 · Its place in the literature

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4 · The record

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5 · Who and what money

Authors and funding

9 authors.

Katsuya UenoDepartment of Neurosurgery, Kansai Medical University, 2-5-1 Shinmachi, Osaka, 573-1010, Hirakata, Japan. ueno1315@gmail.com.
Koichiro HigasaDepartment of Genome Analysis, Institute of Biomedical Science, Kansai Medical University, Hirakata, Osaka, Japan.
Mikio HayashiDepartment of Physiology, Kansai Medical University, Hirakata, Osaka, Japan.
Haruna IsozakiDepartment of Neurosurgery, Kansai Medical University, 2-5-1 Shinmachi, Osaka, 573-1010, Hirakata, Japan.
Mayuko MiyataDepartment of Neurosurgery, Kansai Medical University, 2-5-1 Shinmachi, Osaka, 573-1010, Hirakata, Japan.
Nobuaki NaitoDepartment of Neurosurgery, Kansai Medical University, 2-5-1 Shinmachi, Osaka, 573-1010, Hirakata, Japan.
Yi LiDepartment of Neurosurgery, Kansai Medical University, 2-5-1 Shinmachi, Osaka, 573-1010, Hirakata, Japan.
Junichi TakedaDepartment of Neurosurgery, Kansai Medical University, 2-5-1 Shinmachi, Osaka, 573-1010, Hirakata, Japan.
Masahiro NonakaDepartment of Neurosurgery, Kansai Medical University, 2-5-1 Shinmachi, Osaka, 573-1010, Hirakata, Japan.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

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.

Indexed as

Cerebellar hypoplasiaDandy-Walker malformationTubulinopathy

Identifiers

PMID42310787
PMCPMC13528077

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