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Key apoptotic genes APAF1 and CASP9 implicated in recurrent folate-resistant neural tube defects.


ABSTRACT: Neural tube defects (NTDs) remain one of the most serious birth defects, and although genes in several pathways have been implicated as risk factors for neural tube defects via knockout mouse models, very few molecular causes in humans have been identified. Whole exome sequencing identified deleterious variants in key apoptotic genes in two families with recurrent neural tube defects. Functional studies in fibroblasts indicate that these variants are loss-of-function, as apoptosis is significantly reduced. This is the first report of variants in apoptotic genes contributing to neural tube defect risk in humans.

SUBMITTER: Spellicy CJ 

PROVIDER: S-EPMC5838979 | biostudies-literature | 2018 Mar

REPOSITORIES: biostudies-literature

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Key apoptotic genes APAF1 and CASP9 implicated in recurrent folate-resistant neural tube defects.

Spellicy Catherine J CJ   Norris Joy J   Bend Renee R   Bupp Caleb C   Mester Paul P   Reynolds Tracy T   Dean Jane J   Peng Yunhui Y   Alexov Emil E   Schwartz Charles E CE   Stevenson Roger S RS   J Friez Michael M  

European journal of human genetics : EJHG 20180122 3


Neural tube defects (NTDs) remain one of the most serious birth defects, and although genes in several pathways have been implicated as risk factors for neural tube defects via knockout mouse models, very few molecular causes in humans have been identified. Whole exome sequencing identified deleterious variants in key apoptotic genes in two families with recurrent neural tube defects. Functional studies in fibroblasts indicate that these variants are loss-of-function, as apoptosis is significant  ...[more]

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