{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T04:55:17Z","timestamp":1790398517751,"version":"4.1.0"},"reference-count":9,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2017,2,17]],"date-time":"2017-02-17T00:00:00Z","timestamp":1487289600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"B.C. Children's Hospital Foundation"},{"DOI":"10.13039\/501100000233","name":"Genome BC","doi-asserted-by":"crossref","award":["SOF-195"],"award-info":[{"award-number":["SOF-195"]}],"id":[{"id":"10.13039\/501100000233","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100000233","name":"Genome BC","doi-asserted-by":"crossref","award":["ABC4DE"],"award-info":[{"award-number":["ABC4DE"]}],"id":[{"id":"10.13039\/501100000233","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100000024","name":"Canadian Institutes of Health Research","doi-asserted-by":"crossref","award":["#301221"],"award-info":[{"award-number":["#301221"]}],"id":[{"id":"10.13039\/501100000024","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2017,3]]},"abstract":"<jats:sec><jats:label\/><jats:p><jats:italic>NDST1<\/jats:italic> encodes an enzyme involved in the first steps in the synthesis of heparan sulfate chains, proteoglycans that are regulators found on the cell surface and in the extracellular matrix. Eight individuals homozygous for one of four family\u2010specific missense mutations in the sulfotransferase domain of the enzyme have been described. They have intellectual disability. Some additionally had hypotonia, ataxia. seizures, and\/or short stature, but none had history of respiratory problems. No humans with homozygous null mutations are known. ndst1b (orthologous to NDST1) morpholino knockdown in zebrafish (Danio rerio) causes delayed development, craniofacial cartilage abnormalities, shortened body and pectoral fin length. <jats:italic>Ndst1<\/jats:italic> homozygous null mice have craniofacial abnormalities and die within the first 10\u2009h of life of respiratory failure. We report a girl upon whom deep phenotyping, extensive genetic and biochemical investigations, and exome sequencing were performed. She had cranial nerves dysfunction, gastroesophageal reflux, history of a seizure, ataxia, developmental delays, head sparing failure to thrive, and minor malformations including distinctive facial features and a bifid uvula. Compound heterozygous mutations in <jats:italic>NDST1<\/jats:italic> were identified, in the heparan sulfate N deacetylatase domain of one allele and the sulfotransferase domain of the other allele. This report expands the phenotypic spectrum of Ndst1 deficiency in humans. \u00a9 2017 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37621","type":"journal-article","created":{"date-parts":[[2017,2,17]],"date-time":"2017-02-17T13:51:08Z","timestamp":1487339468000},"page":"712-715","source":"Crossref","is-referenced-by-count":16,"title":["A girl with developmental delay, ataxia, cranial nerve palsies, severe respiratory problems in infancy\u2014Expanding NDST1 syndrome"],"prefix":"10.1002","volume":"173","author":[{"given":"Linlea","family":"Armstrong","sequence":"first","affiliation":[{"name":"Provincial Medical Genetics Program B.C. Women's Hospital &amp; Health Centre Vancouver Canada"},{"name":"Department of Pathology and Laboratory Medicine University of British Columbia Vancouver Canada"},{"name":"BC Children's Hospital Research Institute University of British Columbia Vancouver Canada"},{"name":"Treatable Intellectual Disability Endeavour in British Columbia Vancouver Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maja","family":"Tarailo\u2010Graovac","sequence":"additional","affiliation":[{"name":"BC Children's Hospital Research Institute University of British Columbia Vancouver Canada"},{"name":"Treatable Intellectual Disability Endeavour in British Columbia Vancouver Canada"},{"name":"Department of Medical Genetics B.C. Women's Hospital &amp; Health Centre Vancouver Canada"},{"name":"Center for Molecular Medicine and Therapeutics University of British Columbia Vancouver Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Graham","family":"Sinclair","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine University of British Columbia Vancouver Canada"},{"name":"BC Children's Hospital Research Institute University of British Columbia Vancouver Canada"},{"name":"Treatable Intellectual Disability Endeavour in British Columbia Vancouver Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kimberly I.","family":"Seath","sequence":"additional","affiliation":[{"name":"Provincial Medical Genetics Program B.C. Women's Hospital &amp; Health Centre Vancouver Canada"},{"name":"Department of Medical Genetics B.C. Women's Hospital &amp; Health Centre Vancouver Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wyeth W.","family":"Wasserman","sequence":"additional","affiliation":[{"name":"BC Children's Hospital Research Institute University of British Columbia Vancouver Canada"},{"name":"Treatable Intellectual Disability Endeavour in British Columbia Vancouver Canada"},{"name":"Department of Medical Genetics B.C. Women's Hospital &amp; Health Centre Vancouver Canada"},{"name":"Center for Molecular Medicine and Therapeutics University of British Columbia Vancouver Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Colin J.","family":"Ross","sequence":"additional","affiliation":[{"name":"BC Children's Hospital Research Institute University of British Columbia Vancouver Canada"},{"name":"Treatable Intellectual Disability Endeavour in British Columbia Vancouver Canada"},{"name":"Department of Medical Genetics B.C. Women's Hospital &amp; Health Centre Vancouver Canada"},{"name":"Center for Molecular Medicine and Therapeutics University of British Columbia Vancouver Canada"},{"name":"Department of Pediatrics University of British Columbia Vancouver Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Clara D. M.","family":"van Karnebeek","sequence":"additional","affiliation":[{"name":"BC Children's Hospital Research Institute University of British Columbia Vancouver Canada"},{"name":"Treatable Intellectual Disability Endeavour in British Columbia Vancouver Canada"},{"name":"Department of Medical Genetics B.C. Women's Hospital &amp; Health Centre Vancouver Canada"},{"name":"Department of Pediatrics University of British Columbia Vancouver Canada"},{"name":"Department of Pediatrics Academic Medical Centre Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2017,2,17]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/0471142905.hg0720s76"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0014-5793(00)01111-X"},{"key":"e_1_2_6_4_1","first-page":"1","article-title":"The NDST gene family in zebrafish: Role of NDST1B in pharyngeal arch formation","volume":"13","author":"Filipek\u2010G\u00f3rniok B","year":"2015","journal-title":"PLoS ONE"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2892"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/nprot.2009.86"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1152\/ajplung.2000.279.2.L292"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1152\/ajplung.00211.2007"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36723"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1877-1173(10)93003-2"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.37621","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.37621","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,24]],"date-time":"2023-09-24T06:24:01Z","timestamp":1695536641000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.37621"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,2,17]]},"references-count":9,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2017,3]]}},"alternative-id":["10.1002\/ajmg.a.37621"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.37621","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,2,17]]}}}