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Article

FKBP8 variants are risk factors for spina bifida.

Human molecular genetics - 4 Nov 2020

Tian Tian, Cao Xuanye, Kim Sung-Eun, Lin Ying Linda, Steele John W, Cabrera Robert M, Karki Menuka, Yang Wei, Marini Nicholas J, Hoffman Ethan N, Han Xiao, Hu Cindy, Wang Linlin, Wlodarczyk Bogdan J, Shaw Gary M, Ren Aiguo, Finnell Richard H, Lei Yunping

Abstract excerpt

Neural tube defects (NTDs) are a group of severe congenital malformations caused by a failure of neural tube closure during early embryonic development. Although extensively investigated, the genetic etiology of NTDs remains poorly understood. FKBP8 is critical for proper mammalian neural tube closure. Fkbp8-/- mouse embryos showed posterior NTDs consistent with a diagnosis of spina bifida (SB). To date, no...

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Identifiers

PMID: 32969478
DOI: 10.1093/hmg/ddaa211
PMCID: PMC7645715

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