{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,3]],"date-time":"2026-11-03T13:36:35Z","timestamp":1793712995212,"version":"4.6.1"},"reference-count":13,"publisher":"BMJ","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"accepted":{"date-parts":[[2012,11,9]]},"published-print":{"date-parts":[[2013,2]]},"abstract":"<jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      Asphyxiating Thoracic Dysplasia (ATD) belongs to the short rib polydactyly group and is characterized by a narrow thorax, short long bones and trident acetabular roof. Other reported features include polydactyly, renal, liver and retinal involvement. To date, mutations in\n                      <jats:italic>IFT80<\/jats:italic>\n                      ,\n                      <jats:italic>DYNC2H1<\/jats:italic>\n                      ,\n                      <jats:italic>TTC21B<\/jats:italic>\n                      and\n                      <jats:italic>WDR19<\/jats:italic>\n                      have been reported in ATD. The clinical and molecular heterogeneity leads to difficulties in the evaluation of the long-term prognosis.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      We investigated 53 ATD cases (23 living cases and 30 fetuses) from 39 families. They benefited from a combined approach of deep phenotyping and\n                      <jats:italic>IFT80<\/jats:italic>\n                      and\n                      <jats:italic>DYNC2H1<\/jats:italic>\n                      molecular screening.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Among the 23 postnatal cases, pulmonary insufficiency was noted in 60% of cases, with tracheotomy requirement in five cases. Renal and liver diseases occurred respectively in 17% and 22% of cases, whereas retinal alteration was present in 50% of cases aged more than 5 years. We identified\n                      <jats:italic>DYNC2H1<\/jats:italic>\n                      mutations in 23 families (59%) and\n                      <jats:italic>IFT80<\/jats:italic>\n                      mutations in two families (5%). However, in six families, only one heterozygote mutation in either\n                      <jats:italic>IFT80<\/jats:italic>\n                      or\n                      <jats:italic>DYNC2H1<\/jats:italic>\n                      was identified. Finally, the two genes were excluded in 14 families (36%).\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      We conclude that\n                      <jats:italic>DYNC2H1<\/jats:italic>\n                      is a major gene responsible for ATD, while\n                      <jats:italic>IFT80<\/jats:italic>\n                      is rarely involved. The presence of only one mutation in six families and the exclusion of the two genes in 14 families support the involvement of other causal cilia genes. The long-term follow up emphasizes that the pulmonary prognosis is probably less pejorative and retinal involvement more frequent than previously thought.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1136\/jmedgenet-2012-101282","type":"journal-article","created":{"date-parts":[[2013,1,20]],"date-time":"2013-01-20T23:57:41Z","timestamp":1358726261000},"page":"91-98","source":"Crossref","is-referenced-by-count":86,"title":["Asphyxiating thoracic dysplasia: clinical and molecular review of 39 families"],"prefix":"10.1136","volume":"50","clinical-trial-number":[{"clinical-trial-number":"nct00948376","registry":"10.18810\/clinical-trials-gov"}],"author":[{"given":"Genevi\u00e8ve","family":"Baujat","sequence":"first","affiliation":[{"name":"D\u00e9partement de G\u00e9n\u00e9tique et INSERM U781, Universit\u00e9 Paris Descartes-Sorbonne Paris Cit\u00e9, Fondation Imagine, H\u00f4pital Necker-Enfants malades, AP-HP, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C\u00e9line","family":"Huber","sequence":"additional","affiliation":[{"name":"D\u00e9partement de G\u00e9n\u00e9tique et INSERM U781, Universit\u00e9 Paris Descartes-Sorbonne Paris Cit\u00e9, Fondation Imagine, H\u00f4pital Necker-Enfants malades, AP-HP, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joyce","family":"El Hokayem","sequence":"additional","affiliation":[{"name":"D\u00e9partement de G\u00e9n\u00e9tique et INSERM U781, Universit\u00e9 Paris Descartes-Sorbonne Paris Cit\u00e9, Fondation Imagine, H\u00f4pital Necker-Enfants malades, AP-HP, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roseline","family":"Caumes","sequence":"additional","affiliation":[{"name":"D\u00e9partement de G\u00e9n\u00e9tique et INSERM U781, Universit\u00e9 Paris Descartes-Sorbonne Paris Cit\u00e9, Fondation Imagine, H\u00f4pital Necker-Enfants malades, AP-HP, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claire","family":"Do Ngoc Thanh","sequence":"additional","affiliation":[{"name":"M\u00e9decine Physique et R\u00e9adaptation de l'Enfant, H\u00f4pital Raymond Poincar\u00e9, Garches, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Albert","family":"David","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique M\u00e9dicale, CHU de Nantes, Nantes, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne-Lise","family":"Delezoide","sequence":"additional","affiliation":[{"name":"Service de Biologie du D\u00e9veloppement, Universit\u00e9 Paris Diderot-Sorbonne Paris Cit\u00e9, H\u00f4pital Robert Debr\u00e9, AP-HP, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne","family":"Dieux-Coeslier","sequence":"additional","affiliation":[{"name":"Clinique de G\u00e9n\u00e9tique Guy Fontaine, CHRU, H\u00f4pital Jeanne de Flandre, Lille, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brigitte","family":"Estournet","sequence":"additional","affiliation":[{"name":"M\u00e9decine Physique et R\u00e9adaptation de l'Enfant, H\u00f4pital Raymond Poincar\u00e9, Garches, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine","family":"Francannet","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique M\u00e9dicale, CHU Estaing, Clermont Ferrand, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Honorine","family":"Kayirangwa","sequence":"additional","affiliation":[{"name":"D\u00e9partement de G\u00e9n\u00e9tique et INSERM U781, Universit\u00e9 Paris Descartes-Sorbonne Paris Cit\u00e9, Fondation Imagine, H\u00f4pital Necker-Enfants malades, AP-HP, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Florence","family":"Lacaille","sequence":"additional","affiliation":[{"name":"Service d'H\u00e9patologie-Gastroenterologie-Nutrition, Universit\u00e9 Paris Descartes, H\u00f4pital Necker-Enfants malades, AP-HP, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Muriel","family":"Le Bourgeois","sequence":"additional","affiliation":[{"name":"D\u00e9partement of de Pneumologie et Allergologie, Universit\u00e9 Paris Descartes, H\u00f4pital Necker-Enfants malades, AP-HP, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jelena","family":"Martinovic","sequence":"additional","affiliation":[{"name":"Unit\u00e9 de Foetopathologie, Universit\u00e9 Paris Sud, H\u00f4pital Antoine B\u00e9cl\u00e8re, APHP, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R\u00e9mi","family":"Salomon","sequence":"additional","affiliation":[{"name":"Service de N\u00e9phrologie P\u00e9diatrique et U574, Universit\u00e9 Paris Descartes, H\u00f4pital Necker-Enfants malades, AP-HP, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sabine","family":"Sigaudy","sequence":"additional","affiliation":[{"name":"D\u00e9partement de G\u00e9n\u00e9tique M\u00e9dicale, H\u00f4pital d'Enfant de la Timone, Marseille, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Val\u00e9rie","family":"Malan","sequence":"additional","affiliation":[{"name":"D\u00e9partement de G\u00e9n\u00e9tique et INSERM U781, Universit\u00e9 Paris Descartes-Sorbonne Paris Cit\u00e9, Fondation Imagine, H\u00f4pital Necker-Enfants malades, AP-HP, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arnold","family":"Munnich","sequence":"additional","affiliation":[{"name":"D\u00e9partement de G\u00e9n\u00e9tique et INSERM U781, Universit\u00e9 Paris Descartes-Sorbonne Paris Cit\u00e9, Fondation Imagine, H\u00f4pital Necker-Enfants malades, AP-HP, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martine","family":"Le Merrer","sequence":"additional","affiliation":[{"name":"D\u00e9partement de G\u00e9n\u00e9tique et INSERM U781, Universit\u00e9 Paris Descartes-Sorbonne Paris Cit\u00e9, Fondation Imagine, H\u00f4pital Necker-Enfants malades, AP-HP, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kim Hanh","family":"Le Quan Sang","sequence":"additional","affiliation":[{"name":"D\u00e9partement de G\u00e9n\u00e9tique et INSERM U781, Universit\u00e9 Paris Descartes-Sorbonne Paris Cit\u00e9, Fondation Imagine, H\u00f4pital Necker-Enfants malades, AP-HP, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Val\u00e9rie","family":"Cormier-Daire","sequence":"additional","affiliation":[{"name":"D\u00e9partement de G\u00e9n\u00e9tique et INSERM U781, Universit\u00e9 Paris Descartes-Sorbonne Paris Cit\u00e9, Fondation Imagine, H\u00f4pital Necker-Enfants malades, AP-HP, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2013,1,20]]},"reference":[{"key":"2025101714574497000_50.2.91.1","doi-asserted-by":"publisher","DOI":"10.1001\/archopht.1979.01020010239010"},{"key":"2025101714574497000_50.2.91.2","doi-asserted-by":"publisher","DOI":"10.1001\/archopht.1978.03910050146008"},{"key":"2025101714574497000_50.2.91.3","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-009-0991-3"},{"key":"2025101714574497000_50.2.91.4","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(20000214)90:4<310::AID-AJMG9>3.0.CO;2-N"},{"key":"2025101714574497000_50.2.91.5","doi-asserted-by":"publisher","DOI":"10.1038\/ng2038"},{"key":"2025101714574497000_50.2.91.6","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.04.016"},{"key":"2025101714574497000_50.2.91.7","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.03.015"},{"key":"2025101714574497000_50.2.91.8","doi-asserted-by":"publisher","DOI":"10.1038\/ng.756"},{"key":"2025101714574497000_50.2.91.9","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.10.001"},{"key":"2025101714574497000_50.2.91.10","first-page":"886","article-title":"Asphyxiating thoracic dystrophy with familial characteristics","volume":"12","author":"Jeune","year":"1955","journal-title":"Arch Fr Pediatr"},{"key":"2025101714574497000_50.2.91.11","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32962"},{"key":"2025101714574497000_50.2.91.12","doi-asserted-by":"crossref","first-page":"1021","DOI":"10.1002\/ajmg.a.33892","article-title":"Clinical insights gained from eight new cases and review of reported cases with Jeune syndrome (asphyxiating thoracic dystrophy)","volume":"155A","author":"Keppler-Noreuil","year":"2011","journal-title":"Am J Med Genet A"},{"key":"2025101714574497000_50.2.91.13","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19991203)87:4<324::AID-AJMG8>3.0.CO;2-U"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmedgenet-2012-101282","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T21:57:54Z","timestamp":1760738274000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmedgenet-2012-101282"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,1,20]]},"references-count":13,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2013,1,20]]},"published-print":{"date-parts":[[2013,2]]}},"alternative-id":["10.1136\/jmedgenet-2012-101282"],"URL":"https:\/\/doi.org\/10.1136\/jmedgenet-2012-101282","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,1,20]]}}}