{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,4]],"date-time":"2026-06-04T10:29:44Z","timestamp":1780568984462,"version":"3.54.1"},"reference-count":23,"publisher":"BMJ","issue":"2","funder":[{"name":"National Institute of Health","award":["U54GM104938"],"award-info":[{"award-number":["U54GM104938"]}]},{"name":"National Institute of Health","award":["UG1OD024950"],"award-info":[{"award-number":["UG1OD024950"]}]}],"content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2021,1,2]]},"published-print":{"date-parts":[[2021,2]]},"abstract":"<jats:p>Osteogenesis imperfecta (OI) consists of a group of genetically and phenotypically heterogeneous diseases characterised by bone fragility. Recent improvement in gene sequencing methods has helped us identify rare forms of OI that are inherited in an autosomal recessive manner. Paediatric endocrinology was consulted on a newborn girl with multiple fractures and wavy thin ribs noted on X-rays. In addition to the bone phenotype, she also has short stature and recurrent acute liver failure (ALF) episodes triggered by intercurrent illness. Whole exome sequencing revealed two novel compound heterozygous variants in neuroblastoma amplified sequence (<jats:italic>NBAS<\/jats:italic>) gene. <jats:italic>NBAS<\/jats:italic> gene codes for a protein that is involved in nonsense-mediated decay pathway and retrograde transport of proteins from Golgi to endoplasmic reticulum. Recognition of pathogenic variants in this gene as a rare cause of autosomal recessive OI and recurrent ALF has important therapeutic implications.<\/jats:p>","DOI":"10.1136\/bcr-2020-234993","type":"journal-article","created":{"date-parts":[[2021,2,4]],"date-time":"2021-02-04T16:20:38Z","timestamp":1612455638000},"page":"e234993","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":1,"title":["Novel compound heterozygous variants in the <i>NBAS<\/i> gene in a child with osteogenesis imperfecta and recurrent acute liver failure"],"prefix":"10.1136","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5600-0753","authenticated-orcid":false,"given":"Sowmya","family":"Krishnan","sequence":"first","affiliation":[{"name":"Pediatrics, Section of Diabetes and Endocrinology, University of Oklahoma Health Sciences Center, Oklahoma City, OK, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ankur","family":"Rughani","sequence":"additional","affiliation":[{"name":"Pediatrics, Section of Diabetes and Endocrinology, University of Oklahoma Health Sciences Center, Oklahoma City, OK, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne","family":"Tsai","sequence":"additional","affiliation":[{"name":"Pediatrics, Section of Genetics, University of Oklahoma Health Sciences Center, Oklahoma City, OK, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sirish","family":"Palle","sequence":"additional","affiliation":[{"name":"Pediatrics, Section of Gastroenterology, University of Oklahoma Health Sciences Center, Oklahoma City, OK, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2021,2,4]]},"reference":[{"key":"2025082801261571000_14.2.e234993.1","doi-asserted-by":"crossref","unstructured":"Marini JC . Osteogenesis Imperfecta. In: Rosen CJ , ed. Primer on the metabolic bone diseases and disorders of mineral metabolism, 2013.","DOI":"10.1002\/9781118453926.ch99"},{"key":"2025082801261571000_14.2.e234993.2","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1016\/j.metabol.2017.06.001","article-title":"Osteogenesis imperfecta - A clinical update","volume":"80","author":"Tournis","year":"2018","journal-title":"Metabolism"},{"key":"2025082801261571000_14.2.e234993.3","doi-asserted-by":"crossref","first-page":"3607","DOI":"10.1007\/s00198-016-3709-1","article-title":"Dna sequence analysis in 598 individuals with a clinical diagnosis of osteogenesis imperfecta: diagnostic yield and mutation spectrum","volume":"27","author":"Bardai","year":"2016","journal-title":"Osteoporos Int"},{"key":"2025082801261571000_14.2.e234993.4","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1016\/j.bone.2018.06.013","article-title":"Mutations in the neuroblastoma amplified sequence gene in a family affected by Acrofrontofacionasal dysostosis type 1","volume":"114","author":"Palagano","year":"2018","journal-title":"Bone"},{"key":"2025082801261571000_14.2.e234993.5","doi-asserted-by":"crossref","first-page":"721","DOI":"10.1002\/humu.23734","article-title":"NBAS pathogenic variants: defining the associated clinical and facial phenotype and genotype-phenotype correlations","volume":"40","author":"Carli","year":"2019","journal-title":"Hum Mutat"},{"key":"2025082801261571000_14.2.e234993.6","doi-asserted-by":"publisher","DOI":"10.1016\/j.bone.2016.10.023"},{"key":"2025082801261571000_14.2.e234993.7","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2009.074815"},{"key":"2025082801261571000_14.2.e234993.8","doi-asserted-by":"crossref","first-page":"637","DOI":"10.1016\/j.ejmg.2015.11.005","article-title":"Neuroblastoma amplified sequence (NBAS) mutation in recurrent acute liver failure: confirmatory report in a sibship with very early onset, osteoporosis and developmental delay","volume":"58","author":"Capo-Chichi","year":"2015","journal-title":"Eur J Med Genet"},{"key":"2025082801261571000_14.2.e234993.9","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37338"},{"key":"2025082801261571000_14.2.e234993.10","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkt585"},{"key":"2025082801261571000_14.2.e234993.11","doi-asserted-by":"publisher","DOI":"10.1091\/mbc.E08-11-1104"},{"key":"2025082801261571000_14.2.e234993.12","doi-asserted-by":"crossref","first-page":"1306","DOI":"10.1111\/hepr.13559","article-title":"NBAS disease: 14 new patients, a recurrent mutation, and genotype-phenotype correlation among 24 Chinese patients","volume":"50","author":"Li","year":"2020","journal-title":"Hepatol Res"},{"key":"2025082801261571000_14.2.e234993.13","doi-asserted-by":"crossref","first-page":"610","DOI":"10.1038\/s41436-019-0698-4","article-title":"Defining clinical subgroups and genotype-phenotype correlations in NBAS-associated disease across 110 patients","volume":"22","author":"Staufner","year":"2020","journal-title":"Genet Med"},{"key":"2025082801261571000_14.2.e234993.14","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2015.05.009"},{"key":"2025082801261571000_14.2.e234993.15","doi-asserted-by":"crossref","first-page":"3198","DOI":"10.1002\/ajmg.a.32579","article-title":"Developmental delay, dysmorphic features, neonatal spontaneous fractures, wrinkled skin, and hepatic failure: a new metabolic syndrome?","volume":"146A","author":"M\u00e9garban\u00e9","year":"2008","journal-title":"Am J Med Genet A"},{"key":"2025082801261571000_14.2.e234993.16","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2016-0550"},{"key":"2025082801261571000_14.2.e234993.17","doi-asserted-by":"crossref","first-page":"108","DOI":"10.1016\/j.ajhg.2019.05.011","article-title":"RINT1 bi-allelic variations cause infantile-onset recurrent acute liver failure and skeletal abnormalities","volume":"105","author":"Cousin","year":"2019","journal-title":"Am J Hum Genet"},{"key":"2025082801261571000_14.2.e234993.18","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1007\/s10545-015-9896-7","article-title":"Recurrent acute liver failure due to NBAS deficiency: phenotypic spectrum, disease mechanisms, and therapeutic concepts","volume":"39","author":"Staufner","year":"2016","journal-title":"J Inherit Metab Dis"},{"key":"2025082801261571000_14.2.e234993.19","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2017.05.005"},{"key":"2025082801261571000_14.2.e234993.20","doi-asserted-by":"crossref","DOI":"10.1186\/s12876-017-0636-3","article-title":"Novel NBAS mutations and fever-related recurrent acute liver failure in Chinese children: a retrospective study","volume":"17","author":"Li","year":"2017","journal-title":"BMC Gastroenterol"},{"key":"2025082801261571000_14.2.e234993.21","article-title":"Foveal hypoplasia in short stature with optic atrophy and Pelger-Hu\u00ebt anomaly syndrome with neuroblastoma-amplified sequence (NBAS) gene mutation","author":"Park","year":"2017","journal-title":"J Aapos"},{"key":"2025082801261571000_14.2.e234993.22","doi-asserted-by":"crossref","first-page":"3198","DOI":"10.1002\/ajmg.a.32579","article-title":"Developmental delay, dysmorphic features, neonatal spontaneous fractures, wrinkled skin, and hepatic failure: a new metabolic syndrome?","volume":"146A","author":"M\u00e9garban\u00e9","year":"2008","journal-title":"Am J Med Genet A"},{"key":"2025082801261571000_14.2.e234993.23","doi-asserted-by":"crossref","first-page":"302","DOI":"10.1111\/ped.13476","article-title":"Severe form of neuroblastoma amplified sequence deficiency in an infant with recurrent acute liver failure","volume":"60","author":"Sunwoo","year":"2018","journal-title":"Pediatr Int"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2020-234993","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T08:26:27Z","timestamp":1756369587000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2020-234993"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,2]]},"references-count":23,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2021,2,4]]},"published-print":{"date-parts":[[2021,2]]}},"alternative-id":["10.1136\/bcr-2020-234993"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2020-234993","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,2]]}}}