{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,8]],"date-time":"2026-01-08T02:26:57Z","timestamp":1767839217822,"version":"3.49.0"},"reference-count":10,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2018,11,21]],"date-time":"2018-11-21T00:00:00Z","timestamp":1542758400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2018,12]]},"abstract":"<jats:p>TARP syndrome (talipes equinovarus, atrial septal defect, Robin sequence, and persistence of the left superior vena cava) is a rare X\u2010linked syndrome often resulting in pre\u2010 or post\u2010natal lethality in affected males. In 2010,<jats:italic>RBM10<\/jats:italic>was identified as the disease\u2010causing gene, and we describe the first adult patient with TARP syndrome at age 28\u2009years, hereby expanding the phenotypic spectrum. Our patient had Robin sequence, atrial septal defect, intellectual disability, scoliosis, and other findings previously associated with TARP syndrome. In addition, he had a prominent nose and nasal bridge, esotropia, displacement of lacrimal points in the cranial direction, small teeth, and chin dimple, which are the findings that have not previously been associated with TARP syndrome. Our patient was found to carry a hemizygous c.273_283delinsA<jats:italic>RBM10<\/jats:italic>mutation in exon 4, an exon skipped in three of five protein\u2010coding transcripts, suggesting a possible explanation for our patient surviving to adulthood. Direct sequencing of maternal DNA indicated possible mosaicism, which was confirmed by massive parallel sequencing. One of two sisters were heterozygous for the mutation. Therefore, we recommend sisters of patients with TARP syndrome be carrier tested before family planning regardless of carrier testing results of the mother. Based on our patient and previously reported patients, we suggest TARP syndrome be considered as a possible diagnosis in males with severe or profound intellectual disability combined with septal heart defect, and Robin sequence, micrognathia, or cleft palate.<\/jats:p>","DOI":"10.1002\/ajmg.a.40638","type":"journal-article","created":{"date-parts":[[2018,11,21]],"date-time":"2018-11-21T16:55:32Z","timestamp":1542819332000},"page":"2915-2918","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":20,"title":["First reported adult patient with TARP syndrome: A case report"],"prefix":"10.1002","volume":"176","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0014-3004","authenticated-orcid":false,"given":"Allan T.","family":"H\u00f8jland","sequence":"first","affiliation":[{"name":"Research and Knowledge Center in Sensory Genetics Department of Clinical Genetics, Aalborg University Hospital Aalborg Denmark"},{"name":"Department of Clinical Medicine Aalborg University Aalborg Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ihab","family":"Lolas","sequence":"additional","affiliation":[{"name":"Research and Knowledge Center in Sensory Genetics Section of Molecular Diagnostics, Department of Clinical Biochemistry, Aalborg University Hospital Aalborg Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Henrik","family":"Okkels","sequence":"additional","affiliation":[{"name":"Research and Knowledge Center in Sensory Genetics Section of Molecular Diagnostics, Department of Clinical Biochemistry, Aalborg University Hospital Aalborg Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Charlotte K.","family":"Lautrup","sequence":"additional","affiliation":[{"name":"Research and Knowledge Center in Sensory Genetics Department of Clinical Genetics, Aalborg University Hospital Aalborg Denmark"},{"name":"Department of Clinical Medicine Aalborg University Aalborg Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Birgitte R.","family":"Diness","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Copenhagen University Hospital Rigshospitalet Copenhagen"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael B.","family":"Petersen","sequence":"additional","affiliation":[{"name":"Research and Knowledge Center in Sensory Genetics Department of Clinical Genetics, Aalborg University Hospital Aalborg Denmark"},{"name":"Department of Clinical Medicine Aalborg University Aalborg Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Irene K.","family":"Nielsen","sequence":"additional","affiliation":[{"name":"Research and Knowledge Center in Sensory Genetics Department of Clinical Genetics, Aalborg University Hospital Aalborg Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2018,11,21]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22981"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.1970.02100050178020"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.34190"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36212"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.04.007"},{"key":"e_1_2_7_7_1","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1002\/ajmg.a.10201","article-title":"Designation of the TARP syndrome and linkage to Xp11.23\u2010q13.3 without samples from affected patients","volume":"120","author":"Kurpinski K. 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