Bi-allelic Mutations in NADSYN1 Cause Multiple Organ Defects and Expand the Genotypic Spectrum of Congenital NAD Deficiency Disorders.

doi:10.1016/j.ajhg.2019.12.006

Article

Bi-allelic Mutations in NADSYN1 Cause Multiple Organ Defects and Expand the Genotypic Spectrum of Congenital NAD Deficiency Disorders.

American journal of human genetics - 2 Jan 2020

Szot Justin O, Campagnolo Carla, Cao Ye, Iyer Kavitha R, Cuny Hartmut, Drysdale Thomas, Flores-Daboub Josue A, Bi Weimin, Westerfield Lauren, Liu Pengfei, Leung Tse Ngong, Choy Kwong Wai, Chapman Gavin, Xiao Rui, Siu Victoria M, Dunwoodie Sally L

Abstract excerpt

Birth defects occur in up to 3% of all live births and are the leading cause of infant death. Here we present five individuals from four unrelated families, individuals who share similar phenotypes with disease-causal bi-allelic variants in NADSYN1, encoding NAD synthetase 1, the final enzyme of the nicotinamide adenine dinucleotide (NAD) de novo synthesis pathway. Defects range from the isolated absence of both...

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Bi-allelic Mutations in NADSYN1 Cause Multiple Organ Defects and Expand the Genotypic Spectrum of Congenital NAD Deficiency Disorders.

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