{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,24]],"date-time":"2026-04-24T21:40:26Z","timestamp":1777066826808,"version":"3.51.4"},"reference-count":3,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2011,9,9]],"date-time":"2011-09-09T00:00:00Z","timestamp":1315526400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2011,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>TARP syndrome, comprising Talipes equinovarus, atrial septal defect (ASD), Robin sequence (micrognathia, glossoptosis, and cleft palate), and persistence of the left superior vena cava, is an X\u2010linked condition with pre\u2010 or postnatal lethality in affected males. Based on linkage studies and massively parallel sequencing of X\u2010chromosome exons in two families, the disease\u2010causing gene was identified as <jats:italic>RBM10<\/jats:italic>. We identified a maternally inherited frameshift mutation in an unrelated patient, confirming <jats:italic>RBM10<\/jats:italic> as the disease gene. This is the first reported individual with TARP syndrome who survived past early infancy, thus expanding the phenotypic spectrum of this disorder. In addition to the characteristic cleft palate, ASD, and persistent superior vena cava, he had low\u2010set and posteriorly angulated ears, upslanting palpebral fissures, cryptorchidism, and structural brain abnormalities including partial agenesis of the corpus callosum, dysplastic enlarged caudate, and cerebellar hypoplasia with megacisterna magna. Preterm delivery, suspected pulmonary hypoplasia, and pulmonary hypertension resulted in chronic lung disease. At the age of <jats:styled-content>$3{\\raise0.5ex\\hbox{$\\scriptstyle 7$}\\kern-0.1em\/\\kern-0.15em\\lower0.25ex\\hbox{$\\scriptstyle {12}$}}$<jats:inline-graphic xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" xlink:href=\"graphic\/tex2gif-ueqn-1.gif\" xlink:title=\"equation image\"\/><\/jats:styled-content> years, he remained ventilator\u2010dependent at night, and he was fed exclusively through a gastro\u2010jejunal tube. Sensorineural hearing loss required a hearing aid. Optic atrophy and cortical visual impairment were noted. He was unable to sit independently, was non\u2010communicative and he had severe intellectual disability. Atrial flutter required recurrent ablation of intra\u2010atrial re\u2010entry pathways. The mother's heterozygosity for the <jats:italic>RBM10<\/jats:italic> mutation underscored the importance of accurate diagnosis and counseling for TARP syndrome. \u00a9 2011 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.34190","type":"journal-article","created":{"date-parts":[[2011,9,10]],"date-time":"2011-09-10T02:45:05Z","timestamp":1315622705000},"page":"2516-2520","source":"Crossref","is-referenced-by-count":66,"title":["Long\u2010term survival in TARP syndrome and confirmation of <i>RBM10<\/i> as the disease\u2010causing gene"],"prefix":"10.1002","volume":"155","author":[{"given":"Karen W.","family":"Gripp","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elizabeth","family":"Hopkins","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jennifer J.","family":"Johnston","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Caitlin","family":"Krause","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"William B.","family":"Dobyns","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Leslie G.","family":"Biesecker","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2011,9,9]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.1970.02100050178020"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.04.007"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.10201"}],"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.34190","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.34190","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T14:32:31Z","timestamp":1697639551000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.34190"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,9,9]]},"references-count":3,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2011,10]]}},"alternative-id":["10.1002\/ajmg.a.34190"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.34190","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2011,9,9]]}}}