Article
Disruptive NADSYN1 Variants Implicated in Congenital Vertebral Malformations.
Genes - 14 Oct 2021
Lin Jiachen, Zhao Lina, Zhao Sen, Li Shengjie, Zhao Zhengye, Chen Zefu, Zheng Zhifa, Shao Jiashen, Niu Yuchen, Li Xiaoxin, Zhang Jianguo Terry, Wu Zhihong, Wu Nan
Abstract excerpt
Genetic perturbations in nicotinamide adenine dinucleotide de novo (NAD) synthesis pathway predispose individuals to congenital birth defects. The NADSYN1 encodes the final enzyme in the de novo NAD synthesis pathway and, therefore, plays an important role in NAD metabolism and organ embryogenesis. Biallelic mutations in the NADSYN1 gene have been reported to be causative of congenital organ defects known as VCRL...
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