ArticleHuman mutation2021
New cases that expand the genotypic and phenotypic spectrum of Congenital NAD Deficiency Disorder.
Article in Human mutation, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 30 citations in OpenAlex.
- Timing of NAD Deficiency During Organogenesis Dictates Defect Type and Penetrance.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2026Article
- Dynamic transcriptome analysis during early development of black rockfish (Sebastes schlegelii).Fish physiology and biochemistry · 2025Article
- L-Tryptophan Produced by Bifidobacterium pseudocatenulatum NCU-08 Delays Aging in SAMP8 Mice by Activating the Sirt1/P53/P21/Rb Signaling Pathway.Aging cell · 2025Article
- Maternal Circulatory NAD Precursor Levels and the Yolk Sac Determine NAD Deficiency-Driven Congenital Malformation Risk.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2025Article
- Impaired yolk sac NAD metabolism disrupts murine embryogenesis with relevance to human birth defects.eLife · 2025Article
- Supplementation with NAD+ and its precursors: A rescue of female reproductive diseases.Biochemistry and biophysics reports · 2024Review
- A metabolic signature for NADSYN1-dependent congenital NAD deficiency disorder.The Journal of clinical investigation · 2024Article
- Inhibitors of NADInternational journal of molecular sciences · 2024Review
- The Role of NADPharmaceuticals (Basel, Switzerland) · 2024Review
- Metabolic Alterations in NADSYN1-Deficient Cells.Metabolites · 2023Article
- Clinical and biochemical footprints of inherited metabolic diseases. XIV. Metabolic kidney diseases.Molecular genetics and metabolism · 2023Article
- Exploring the Genetic Causes for Postnatal Growth Failure in Children Born Non-Small for Gestational Age.Journal of clinical medicine · 2023Article
- Disruption of BMP4 signaling is associated with laryngeal birth defects in a mouse model.Developmental biology · 2023Article
- The NAD salvage pathway in mesenchymal cells is indispensable for skeletal development in mice.Nature communications · 2023Article
- Maternal heterozygosity of Slc6a19 causes metabolic perturbation and congenital NAD deficiency disorder in mice.Disease models & mechanisms · 2023Article
- NAD+ deficiency in human congenital malformations and miscarriage: A new model of pleiotropy.American journal of medical genetics. Part A · 2022Article
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Authors and funding
29 authors at 10 institutions in 5 countries.
Funding
Abstract
Nicotinamide adenine dinucleotide (NAD) is an essential coenzyme involved in over 400 cellular reactions. During embryogenesis, mammals synthesize NAD de novo from dietary l -tryptophan via the kynurenine pathway. Biallelic, inactivating variants in three genes encoding enzymes of this biosynthesis pathway (KYNU, HAAO, and NADSYN1) disrupt NAD synthesis and have been identified in patients with multiple malformations of the heart, kidney, vertebrae, and limbs; these patients have Congenital NAD Deficiency Disorder HAAO and four families with biallelic variants in KYNU. These patients present similarly with multiple malformations of the heart, kidney, vertebrae, and limbs, of variable severity. We show that each variant identified in these patients results in loss-of-function, revealed by a significant reduction in NAD levels via yeast genetic complementation assays. For the first time, missense mutations are identified as a cause of malformation and shown to disrupt enzyme function. These missense and frameshift variants cause moderate to severe NAD deficiency in yeast, analogous to insufficient synthesized NAD in patients. We hereby expand the genotypic and corresponding phenotypic spectrum of Congenital NAD Deficiency Disorder.
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