{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,13]],"date-time":"2025-12-13T23:10:38Z","timestamp":1765667438225,"version":"3.44.0"},"reference-count":12,"publisher":"BMJ","issue":"3","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2023,3,16]]},"published-print":{"date-parts":[[2023,3]]},"abstract":"<jats:p>TARP (talipes equinovarus, atrial septal defect (ASD), Robin sequence, persistent left superior vena cava) syndrome is a rare X-linked disorder affecting the <jats:italic>RBM10<\/jats:italic> gene. It was previously viewed as universally fatal in the early neonatal period, however, recent cases have shown patients surviving beyond this stage. We present a male toddler diagnosed with TARP syndrome due to a a previously unreported splicing mutation c.2295+1G&gt;A in the <jats:italic>RBM10<\/jats:italic> gene. At birth, he had an ASD and Robin sequence, two of the eponymous features, as well as other associated phenotypic features. During infancy, he had an extremely high alpha-fetoprotein, conjugated hyperbilirubinaemia and thrombocytopaenia, features not previously described in TARP syndrome. We discuss these findings as well as our patient\u2019s survival past the neonatal period with special consideration to recent genotype\u2013phenotypes correlations.<\/jats:p>","DOI":"10.1136\/bcr-2022-253035","type":"journal-article","created":{"date-parts":[[2023,3,27]],"date-time":"2023-03-27T01:05:42Z","timestamp":1679879142000},"page":"e253035","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":2,"title":["Abnormal liver function tests and improved survival in a child with splice mutation TARP syndrome"],"prefix":"10.1136","volume":"16","author":[{"given":"Michael","family":"Lane","sequence":"first","affiliation":[{"name":"Paediatrics, National University of Ireland, Galway, Ireland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nicholas M","family":"Allen","sequence":"additional","affiliation":[{"name":"Paediatrics, Galway University Hospitals, Galway, Ireland"},{"name":"Paediatrics, University of Galway, Galway, Ireland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Johannes","family":"Letshwiti","sequence":"additional","affiliation":[{"name":"Paediatrics, Galway University Hospitals, Galway, Ireland"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2023,3,21]]},"reference":[{"key":"2025082722590670000_16.3.e253035.1","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.1970.02100050178020"},{"key":"2025082722590670000_16.3.e253035.2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.04.007"},{"key":"2025082722590670000_16.3.e253035.3","doi-asserted-by":"crossref","unstructured":"Inoue A . RBM10: structure, functions, and associated diseases. Gene 2021;783. doi:10.1016\/j.gene.2021.145463","DOI":"10.1016\/j.gene.2021.145463"},{"key":"2025082722590670000_16.3.e253035.4","doi-asserted-by":"crossref","first-page":"449","DOI":"10.1111\/cge.13901","article-title":"Phenotypic spectrum of the RBM10-mediated intellectual disability and congenital malformation syndrome beyond classic Tarp syndrome features","volume":"99","author":"Kumps","year":"2021","journal-title":"Clin Genet"},{"key":"2025082722590670000_16.3.e253035.5","doi-asserted-by":"crossref","first-page":"103534","DOI":"10.1016\/j.ejmg.2018.09.001","article-title":"Tarp syndrome: long-term survival, anatomic patterns of congenital heart defects, differential diagnosis and pathogenetic considerations","volume":"62","author":"Niceta","year":"2019","journal-title":"Eur J Med Genet"},{"key":"2025082722590670000_16.3.e253035.6","doi-asserted-by":"crossref","first-page":"120","DOI":"10.1002\/ajmg.a.36212","article-title":"Expansion of the Tarp syndrome phenotype associated with de novo mutations and mosaicism","volume":"164A","author":"Johnston","year":"2014","journal-title":"Am J Med Genet A"},{"key":"2025082722590670000_16.3.e253035.7","doi-asserted-by":"crossref","first-page":"2911","DOI":"10.1002\/ajmg.a.40645","article-title":"Infant male with Tarp syndrome: review of clinical features, prognosis, and commonalities with previously reported patients","volume":"176","author":"Kaeppler","year":"2018","journal-title":"Am J Med Genet A"},{"key":"2025082722590670000_16.3.e253035.8","doi-asserted-by":"crossref","first-page":"783","DOI":"10.1515\/cclm-2018-0803","article-title":"Serum \u03b1-fetoprotein in pediatric oncology: not a children\u2019s tale","volume":"57","author":"Ferraro","year":"2019","journal-title":"Clin Chem Lab Med"},{"key":"2025082722590670000_16.3.e253035.9","first-page":"63","article-title":"National pirogov memorial medical university, vinnytsia, ukraine, rubina OS, national pirogov memorial medical university, vinnytsia, ukraine. alpha-fetoprotein as a biochemical diagnostic and prognostic marker for prolonged jaundice in newborns","volume":"91","author":"Vinnytsia","year":"2019","journal-title":"UkrBiochemJ"},{"key":"2025082722590670000_16.3.e253035.10","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.34190"},{"key":"2025082722590670000_16.3.e253035.11","doi-asserted-by":"crossref","first-page":"2915","DOI":"10.1002\/ajmg.a.40638","article-title":"First reported adult patient with Tarp syndrome: a case report","volume":"176","author":"H\u00f8jland","year":"2018","journal-title":"Am J Med Genet A"},{"key":"2025082722590670000_16.3.e253035.12","doi-asserted-by":"crossref","first-page":"606","DOI":"10.1111\/cge.13835","article-title":"A novel missense variant in RBM10 can cause a mild form of Tarp syndrome with developmental delay and dysmorphic features","volume":"98","author":"Imagawa","year":"2020","journal-title":"Clin Genet"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2022-253035","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T05:59:15Z","timestamp":1756360755000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2022-253035"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,3]]},"references-count":12,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2023,3,21]]},"published-print":{"date-parts":[[2023,3]]}},"alternative-id":["10.1136\/bcr-2022-253035"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2022-253035","relation":{},"ISSN":["1757-790X"],"issn-type":[{"type":"electronic","value":"1757-790X"}],"subject":[],"published":{"date-parts":[[2023,3]]}}}