{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,4]],"date-time":"2026-06-04T10:07:18Z","timestamp":1780567638256,"version":"3.54.1"},"reference-count":15,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2015,8,19]],"date-time":"2015-08-19T00:00:00Z","timestamp":1439942400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001711","name":"Schweizerischer Nationalfonds zur F\u00f6rderung der Wissenschaftlichen Forschung","doi-asserted-by":"publisher","award":["310030_132940"],"award-info":[{"award-number":["310030_132940"]}],"id":[{"id":"10.13039\/501100001711","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2015,12]]},"abstract":"<jats:sec><jats:label\/><jats:p>We report two unrelated patients with a multisystem disease involving liver, eye, immune system, connective tissue, and bone, caused by biallelic mutations in the neuroblastoma amplified sequence (<jats:italic>NBAS<\/jats:italic>) gene. Both presented as infants with recurrent episodes triggered by fever with vomiting, dehydration, and elevated transaminases. They had frequent infections, hypogammaglobulinemia, reduced natural killer cells, and the Pelger\u2013Hu\u00ebt anomaly of their granulocytes. Their facial features were similar with a pointed chin and proptosis; loose skin and reduced subcutaneous fat gave them a progeroid appearance. Skeletal features included short stature, slender bones, epiphyseal dysplasia with multiple phalangeal pseudo\u2010epiphyses, and small C1\u2010C2 vertebrae causing cervical instability and myelopathy. Retinal dystrophy and optic atrophy were present in one patient. NBAS is a component of the synthaxin\u201018 complex and is involved in nonsense\u2010mediated mRNA decay control. Putative loss\u2010of\u2010function mutations in <jats:italic>NBAS<\/jats:italic> are already known to cause disease in humans. A specific founder mutation has been associated with short stature, optic nerve atrophy and Pelger\u2013Hu\u00ebt anomaly of granulocytes (SOPH) in the Siberian Yakut population. A more recent report associates <jats:italic>NBAS<\/jats:italic> mutations with recurrent acute liver failure in infancy in a group of patients of European descent. Our observations indicate that the phenotypic spectrum of NBAS deficiency is wider than previously known and includes skeletal, hepatic, metabolic, and immunologic aspects. Early recognition of the skeletal phenotype is important for preventive management of cervical instability. \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37338","type":"journal-article","created":{"date-parts":[[2015,8,19]],"date-time":"2015-08-19T11:12:21Z","timestamp":1439982741000},"page":"2902-2912","source":"Crossref","is-referenced-by-count":66,"title":["NBAS mutations cause a multisystem disorder involving bone, connective tissue, liver, immune system, and retina"],"prefix":"10.1002","volume":"167","author":[{"given":"Nuria Garcia","family":"Segarra","sequence":"first","affiliation":[{"name":"Center for Molecular Diseases Lausanne University Hospital Lausanne Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Diana","family":"Ballhausen","sequence":"additional","affiliation":[{"name":"Center for Molecular Diseases Lausanne University Hospital Lausanne 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