{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,23]],"date-time":"2026-10-23T20:49:43Z","timestamp":1792788583320,"version":"4.5.0"},"reference-count":17,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2026,5,19]],"date-time":"2026-05-19T00:00:00Z","timestamp":1779148800000},"content-version":"vor","delay-in-days":18,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,5,1]],"date-time":"2026-05-01T00:00:00Z","timestamp":1777593600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Intl J of Devlp Neuroscience"],"published-print":{"date-parts":[[2026,5]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Congenital NAD deficiency (CNDD) is a rare autosomal recessive disorder characterized by multiple congenital anomalies, frequently affecting the spine, kidneys, heart and nervous system.\n                    <jats:italic>NADSYN1<\/jats:italic>\n                    is one of the genes of the NAD pathway that is mutated in CNDD. Here, we report a 5\u2010year\u2010old boy from a consanguineous family presenting with multiple vertebral segmentation defects, developmental delay and intellectual and speech impairment. To identify the disease\u2010causing variant, whole\u2010exome sequencing (WES) coupled with Sanger sequencing was performed. WES identified a biallelic missense variant c.193C&gt;T (p.His65Tyr) in the\n                    <jats:italic>NADSYN1<\/jats:italic>\n                    gene affecting a highly conserved amino acid within the glutaminase domain. This case expands the clinical and mutational spectrum of NADSYN1 related CNDD, highlighting a predominantly skeletal phenotype with neurodevelopmental involvement and emphasizing the importance of NAD biosynthesis in early development.\n                  <\/jats:p>","DOI":"10.1002\/jdn.70140","type":"journal-article","created":{"date-parts":[[2026,5,19]],"date-time":"2026-05-19T18:14:33Z","timestamp":1779214473000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Homozygous Variant in\n                    <i>NADSYN1<\/i>\n                    Causes Multiple Congenital Vertebral Malformation, With Neurodevelopmental Disorder"],"prefix":"10.1002","volume":"86","author":[{"given":"Zaheer","family":"Ahmed","sequence":"first","affiliation":[{"name":"Department of Biosciences COMSATS University Islamabad  Islamabad Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Summan","family":"Thahiem","sequence":"additional","affiliation":[{"name":"Department of Biochemistry, Faculty of Biological Sciences Quaid\u2010i\u2010Azam University  Islamabad Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Allah","family":"Bakhsh","sequence":"additional","affiliation":[{"name":"Jhalawan Medical College  Khuzdar Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Muhammad Jawad","family":"Khan","sequence":"additional","affiliation":[{"name":"Department of Biosciences COMSATS University Islamabad  Islamabad Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Muhammad","family":"Umair","sequence":"additional","affiliation":[{"name":"Medical Genomics Research Department King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs (MNGH)  Riyadh Saudi Arabia"},{"name":"Department of Life Sciences, School of Science University of Management and Technology (UMT)  Lahore Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1961-8105","authenticated-orcid":false,"given":"Hammal","family":"Khan","sequence":"additional","affiliation":[{"name":"Department of Biosciences COMSATS University Islamabad  Islamabad Pakistan"},{"name":"Government Degree College  Kalat Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,5,19]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth0410-248"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.14328"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-019-13845-4"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1089\/ars.2023.0349"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2023.104698"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkab402"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2016.08.016"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2892"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.62765"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.3390\/genes12101615"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.176601"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth.2890"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2019.12.006"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI174824"},{"key":"e_1_2_10_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41597-024-03327-8"},{"key":"e_1_2_10_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41392-020-00311-7"},{"key":"e_1_2_10_18_1","doi-asserted-by":"publisher","DOI":"10.1038\/s44324-025-00067-0"}],"container-title":["International Journal of Developmental 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