Identification of two novel de novo TUBB variants in cases with brain malformations: case reports and literature review-Reference-Cited by-同舟云学术

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Identification of two novel de novo TUBB variants in cases with brain malformations: case reports and literature review

Published:2021-07-01 Issue:12 Volume:66 Page:1193-1197
ISSN:1434-5161
Container-title:Journal of Human Genetics
language:en
Short-container-title:J Hum Genet

Author:

Watanabe Kazuki^ORCID,Nakashima Mitsuko^ORCID,Kumada Satoko,Mashimo Hideaki,Enokizono Mikako,Yamada Keitaro,Kato Mitsuhiro,Saitsu Hirotomo^ORCID

Funder

Ministry of Health, Labour and Welfare

Takeda Science Foundation

Japan Society for the Promotion of Science Hamamatsu University School of Medicine

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

https://www.nature.com/articles/s10038-021-00956-4.pdf

Reference15 articles.

1. Breuss M, Keays DA. Microtubules and neurodevelopmental disease: the movers and the makers. Adv Exp Med Biol. 2014;800:75–96.

2. Romaniello R, Arrigoni F, Fry AE, Bassi MT, Rees MI, Borgatti R, et al. Tubulin genes and malformations of cortical development. Eur J Med Genet. 2018;61:744–54.

3. Breuss M, Heng JI, Poirier K, Tian G, Jaglin XH, Qu Z, et al. Mutations in the β-tubulin gene TUBB5 cause microcephaly with structural brain abnormalities. Cell Rep. 2012;2:1554–62.

4. Isrie M, Breuss M, Tian G, Hansen AH, Cristofoli F, Morandell J, et al. Mutations in either TUBB or MAPRE2 cause circumferential skin creases kunze type. Am J Hum Genet. 2015;97:790–800.

5. Tadaka S, Hishinuma E, Komaki S, Motoike IN, Kawashima J, Saigusa D, et al. jMorp updates in 2020: large enhancement of multi-omics data resources on the general Japanese population. Nucleic Acids Res. 2021;49:D536–D544.

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