{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,21]],"date-time":"2026-09-21T16:53:35Z","timestamp":1790009615104,"version":"4.0.1"},"reference-count":25,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2017,3,13]],"date-time":"2017-03-13T00:00:00Z","timestamp":1489363200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["RO1DE01957"],"award-info":[{"award-number":["RO1DE01957"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["R01AR062651"],"award-info":[{"award-number":["R01AR062651"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["RO1AR066124"],"award-info":[{"award-number":["RO1AR066124"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000051","name":"National Human Genome Research Institute","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000051","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000050","name":"National Heart, Lung, and Blood Institute","doi-asserted-by":"publisher","award":["1U54HG006493"],"award-info":[{"award-number":["1U54HG006493"]}],"id":[{"id":"10.13039\/100000050","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2017,8]]},"abstract":"<jats:p>The short\u2010rib polydactyly syndromes (<jats:styled-content style=\"fixed-case\">SRPS<\/jats:styled-content>) are autosomal recessively inherited, genetically heterogeneous skeletal ciliopathies. <jats:styled-content style=\"fixed-case\">SRPS<\/jats:styled-content> phenotypes were historically categorized as types I\u2013<jats:styled-content style=\"fixed-case\">IV<\/jats:styled-content>, with type I first delineated by Saldino and Noonan in 1972. Characteristic findings among all forms of <jats:styled-content style=\"fixed-case\">SRP<\/jats:styled-content> include short horizontal ribs, short limbs and polydactyly. The <jats:styled-content style=\"fixed-case\">SRP<\/jats:styled-content> type I phenotype is characterized by a very small thorax, extreme micromelia, very short, poorly mineralized long bones, and multiple organ system anomalies. To date, the molecular basis of this most severe type of <jats:styled-content style=\"fixed-case\">SRP<\/jats:styled-content>, also known as Saldino\u2013Noonan syndrome, has not been determined. We identified three <jats:styled-content style=\"fixed-case\">SRP<\/jats:styled-content> cases that fit the original phenotypic description of <jats:styled-content style=\"fixed-case\">SRP<\/jats:styled-content> type I. In all three cases, exome sequence analysis revealed compound heterozygosity for mutations in <jats:italic><jats:styled-content style=\"fixed-case\">DYNC2H1<\/jats:styled-content><\/jats:italic>, which encodes the main component of the retrograde <jats:styled-content style=\"fixed-case\">IFT<\/jats:styled-content> A motor, cytoplasmic dynein 2 heavy chain 1. Thus <jats:styled-content style=\"fixed-case\">SRP<\/jats:styled-content> type I, <jats:styled-content style=\"fixed-case\">II<\/jats:styled-content>, <jats:styled-content style=\"fixed-case\">III<\/jats:styled-content> and asphyxiating thoracic dystrophy (<jats:styled-content style=\"fixed-case\">ATD<\/jats:styled-content>), which also result from <jats:italic><jats:styled-content style=\"fixed-case\">DYNC2H1<\/jats:styled-content><\/jats:italic> mutations. Herein we describe the phenotypic features, radiographic findings, and molecular basis of <jats:styled-content style=\"fixed-case\">SRP<\/jats:styled-content> type I.<\/jats:p>","DOI":"10.1111\/cge.12947","type":"journal-article","created":{"date-parts":[[2016,12,7]],"date-time":"2016-12-07T09:16:55Z","timestamp":1481102215000},"page":"158-165","source":"Crossref","is-referenced-by-count":26,"title":["Mutations in <i><scp>DYNC2H1<\/scp><\/i>, the cytoplasmic dynein 2, heavy chain 1 motor protein gene, cause short\u2010rib polydactyly type I, Saldino\u2013Noonan type"],"prefix":"10.1111","volume":"92","author":[{"given":"N.","family":"Badiner","sequence":"first","affiliation":[{"name":"David Geffen School of Medicine at UCLA  Los Angeles CA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.P.","family":"Taylor","sequence":"additional","affiliation":[{"name":"Department of Human Genetics  Los Angeles CA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K.","family":"Forlenza","sequence":"additional","affiliation":[{"name":"Department of Orthopaedic Surgery  Los Angeles CA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R. S.","family":"Lachman","sequence":"additional","affiliation":[{"name":"International Skeletal Dysplasia Registry at UCLA  Los Angeles CA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"University of Washington Center for Mendelian Genomics","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Bamshad","sequence":"additional","affiliation":[{"name":"University of Washington Center for Mendelian Genomics  Seattle WA USA"},{"name":"Department of Genome Sciences  Seattle WA USA"},{"name":"Department of Pediatrics University of Washington  Seattle WA USA"},{"name":"Division of Genetic Medicine Seattle Children's Hospital  Seattle WA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D.","family":"Nickerson","sequence":"additional","affiliation":[{"name":"University of Washington Center for Mendelian Genomics  Seattle WA USA"},{"name":"Department of Genome Sciences  Seattle WA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D. H.","family":"Cohn","sequence":"additional","affiliation":[{"name":"Department of Orthopaedic Surgery  Los Angeles CA USA"},{"name":"International Skeletal Dysplasia Registry at UCLA  Los Angeles CA USA"},{"name":"Department of Developmental Cell and Molecular Biology University of California at Los Angeles  Los Angeles CA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D.","family":"Krakow","sequence":"additional","affiliation":[{"name":"Department of Human Genetics  Los Angeles CA USA"},{"name":"Department of Orthopaedic Surgery  Los Angeles CA USA"},{"name":"International Skeletal Dysplasia Registry at UCLA  Los Angeles CA USA"},{"name":"Department of Obstetrics and Gynecology David Geffen School of Medicine at UCLA  Los Angeles CA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2017,3,13]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37365"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1148\/122.2.443"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320070215"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10562"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.22.1.46"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.30.11.937"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12550"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.2214\/ajr.114.2.257"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02388282"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/s002470000354"},{"key":"e_1_2_6_12_1","volume-title":"Taybi and Lachman's radiology of syndromes, metabolic disorders, and skeletal dysplasias","author":"Lachman RS","year":"2007"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320070213"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1101\/cshperspect.a028092"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1186\/2046-2530-2-10"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.04.016"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.03.015"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1038\/ncomms8092"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1093\/bib\/bbu008"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth0410-248"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1038\/nprot.2009.86"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.03.004"},{"key":"e_1_2_6_23_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2892"},{"key":"e_1_2_6_24_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2011-100717"},{"key":"e_1_2_6_25_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2012-101282"},{"key":"e_1_2_6_26_1","doi-asserted-by":"publisher","DOI":"10.1002\/ppul.20218"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fcge.12947","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.12947","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,10]],"date-time":"2023-09-10T01:19:51Z","timestamp":1694308791000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.12947"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,3,13]]},"references-count":25,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2017,8]]}},"alternative-id":["10.1111\/cge.12947"],"URL":"https:\/\/doi.org\/10.1111\/cge.12947","archive":["Portico"],"relation":{},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,3,13]]}}}