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Article

TUBA1A mutation can cause a hydranencephaly-like severe form of cortical dysgenesis.

Scientific reports - 23 Oct 2015

Yokoi Setsuri, Ishihara Naoko, Miya Fuyuki, Tsutsumi Makiko, Yanagihara Itaru, Fujita Naoko, Yamamoto Hiroyuki, Kato Mitsuhiro, Okamoto Nobuhiko, Tsunoda Tatsuhiko, Yamasaki Mami, Kanemura Yonehiro, Kosaki Kenjiro, Kojima Seiji, Saitoh Shinji, Kurahashi Hiroki, Natsume Jun

Abstract excerpt

TUBA1A mutations cause a wide spectrum of lissencephaly and brain malformations. Here, we report two patients with severe cortical dysgeneses, one with an extremely thin cerebral parenchyma apparently looking like hydranencephaly and the other with lissencephaly accompanied by marked hydrocephalus, both harbouring novel de novo missense mutations of TUBA1A. To elucidate how the various TUBA1A mutations affect the...

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PMID: 26493046
DOI: 10.1038/srep15165
PMCID: PMC4615979

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