Ontology highlight
ABSTRACT:
SUBMITTER: Szot JO
PROVIDER: S-EPMC7042491 | biostudies-literature | 2020 Jan
REPOSITORIES: biostudies-literature
Szot Justin O JO Campagnolo Carla C Cao Ye Y Iyer Kavitha R KR Cuny Hartmut H Drysdale Thomas T Flores-Daboub Josue A JA Bi Weimin W Westerfield Lauren L Liu Pengfei P Leung Tse Ngong TN Choy Kwong Wai KW Chapman Gavin G Xiao Rui R Siu Victoria M VM Dunwoodie Sally L SL
American journal of human genetics 20191226 1
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 kidneys to multiple malformations of the vertebrae, heart, limbs, and kidney, and no ...[more]