{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,23]],"date-time":"2026-10-23T20:52:02Z","timestamp":1792788722887,"version":"4.5.0"},"reference-count":17,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2022,5,2]],"date-time":"2022-05-02T00:00:00Z","timestamp":1651449600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000051","name":"National Human Genome Research Institute","doi-asserted-by":"publisher","award":["U01HG009599"],"award-info":[{"award-number":["U01HG009599"]}],"id":[{"id":"10.13039\/100000051","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000057","name":"National Institute of General Medical Sciences","doi-asserted-by":"publisher","award":["T32GM141323"],"award-info":[{"award-number":["T32GM141323"]}],"id":[{"id":"10.13039\/100000057","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2022,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Congenital nicotinamide adenine dinucleotide (NAD) deficiency disorders are associated with pathogenic variants in the genes <jats:italic>NADSYN1<\/jats:italic>, <jats:italic>HAAO<\/jats:italic>, and <jats:italic>KYNU<\/jats:italic>. These disorders overlap with the anomalies present in vertebral, anal, cardiac, tracheoesophageal, radial and renal, and limb anomalies (VATER\/VACTERL) association and often result in premature death. Children who survive typically have developmental delays or intellectual disability. Here, we describe two patients with compound heterozygous variants in <jats:italic>NADSYN1<\/jats:italic> who presented with cardiac and vertebral defects overlapping with the VATER\/VACTERL association, although the patients did not satisfy criteria for the diagnosis of VATER\/VACTERL due to their lack of limb anomalies and significant renal anomalies. One patient survived into childhood with developmental delays and may represent an expansion of the survival data for <jats:italic>NADSYN1\u2010<\/jats:italic>associated NAD deficiency disorders. Interestingly, one patient had hypoplastic left heart syndrome (HLHS) and one had an aortic coarctation and transverse hypoplasia of the aortic arch, suggesting that <jats:italic>NADSYN1<\/jats:italic> sequencing should be performed in children presenting with congenital anomalies related to VATER\/VACTERL association and with HLHS and aortic arch abnormalities.<\/jats:p>","DOI":"10.1002\/ajmg.a.62765","type":"journal-article","created":{"date-parts":[[2022,5,2]],"date-time":"2022-05-02T08:34:25Z","timestamp":1651480465000},"page":"2479-2484","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":16,"title":["Further description of two patients with biallelic variants in <scp><i>NADSYN1<\/i><\/scp> in association with cardiac and vertebral anomalies"],"prefix":"10.1002","volume":"188","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6482-0724","authenticated-orcid":false,"given":"Hannah","family":"Kortbawi","sequence":"first","affiliation":[{"name":"School of Medicine University of California San Francisco  San Francisco California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0428-1909","authenticated-orcid":false,"given":"Elizabeth","family":"Ames","sequence":"additional","affiliation":[{"name":"Division of Pediatric Genetics, Metabolism, and Genomic Medicine C. S. Mott Children's Hospital, Michigan Medicine  Ann Arbor Michigan USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amanda","family":"Pritchard","sequence":"additional","affiliation":[{"name":"Division of Pediatric Genetics, Metabolism, and Genomic Medicine C. S. Mott Children's Hospital, Michigan Medicine  Ann Arbor Michigan USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrick","family":"Devine","sequence":"additional","affiliation":[{"name":"Department of Pathology University of California San Francisco  San Francisco California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jessica","family":"van Ziffle","sequence":"additional","affiliation":[{"name":"Department of Pathology University of California San Francisco  San Francisco California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7053-2449","authenticated-orcid":false,"given":"Anne","family":"Slavotinek","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Department of Pediatrics University of California San Francisco  San Francisco California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,5,2]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.nutr.28.061807.155443"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-019-13845-4"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M209203200"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2018.12.015"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gku1206"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41586-020-2308-7"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2892"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkx1153"},{"key":"e_1_2_11_10_1","volume-title":"Online Mendelian Inheritance in Man, OMIM\u00ae","author":"McKusick\u2010Nathans Institute of Genetic Medicine","year":"2022"},{"key":"e_1_2_11_11_1","volume-title":"StatPearls","author":"Mousa T. 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