{"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":1790009615222,"version":"4.0.1"},"reference-count":18,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2015,7,26]],"date-time":"2015-07-26T00:00:00Z","timestamp":1437868800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Congenital Anomalies"],"published-print":{"date-parts":[[2015,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Short\u2010rib polydactyly syndrome type <jats:styled-content style=\"fixed-case\">III<\/jats:styled-content> is an autosomal recessive lethal skeletal ciliopathy, which is phenotypically similar to nonlethal asphyxiating thoracic dystrophy. Mutations in <jats:italic><jats:styled-content style=\"fixed-case\">DYNC2H1<\/jats:styled-content><\/jats:italic> have been identified in both of these disorders, indicating that they are variants of a single disorder. However, short\u2010rib polydactyly syndrome type <jats:styled-content style=\"fixed-case\">III<\/jats:styled-content> is the more severe variant. Here, we report novel compound heterozygous mutations in <jats:italic><jats:styled-content style=\"fixed-case\">DYNC2H1<\/jats:styled-content><\/jats:italic> (p.<jats:styled-content style=\"fixed-case\">E1894fsX10<\/jats:styled-content> and p.<jats:styled-content style=\"fixed-case\">R3004C<\/jats:styled-content>) in a patient with typical short\u2010rib polydactyly syndrome type <jats:styled-content style=\"fixed-case\">III<\/jats:styled-content> phenotype. <jats:styled-content style=\"fixed-case\">R3004<\/jats:styled-content> is located within the microtubule\u2010binding domain of <jats:styled-content style=\"fixed-case\">DYNC2H1<\/jats:styled-content>, and its substitution is predicted to disrupt the interaction with microtubules. Considering the severe phenotype of our patient, our findings suggest that <jats:styled-content style=\"fixed-case\">R3004<\/jats:styled-content> may be a key residue for the microtubule\u2010binding affinity of dynein.<\/jats:p>","DOI":"10.1111\/cga.12098","type":"journal-article","created":{"date-parts":[[2014,11,20]],"date-time":"2014-11-20T07:32:03Z","timestamp":1416468723000},"page":"155-157","source":"Crossref","is-referenced-by-count":17,"title":["Novel compound heterozygous mutations in <i><scp>DYNC2H1<\/scp><\/i> in a patient with severe short\u2010rib polydactyly syndrome type <scp>III<\/scp> phenotype"],"prefix":"10.1111","volume":"55","author":[{"given":"Toshio","family":"Okamoto","sequence":"first","affiliation":[{"name":"Department of Pediatrics Asahikawa Medical University  Hokkaido Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ken","family":"Nagaya","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Asahikawa Medical University  Hokkaido Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yumi","family":"Kawata","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Asahikawa Medical University  Hokkaido Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hiroko","family":"Asai","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Asahikawa Medical University  Hokkaido Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Etsushi","family":"Tsuchida","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Asahikawa Medical University  Hokkaido Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fumikatsu","family":"Nohara","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Asahikawa Medical University  Hokkaido Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kazuki","family":"Okajima","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Asahikawa Medical University  Hokkaido Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hiroshi","family":"Azuma","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Asahikawa Medical University  Hokkaido Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2015,7,26]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2012-101282"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng2038"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1202393"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2009.069468"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.04.016"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(20000214)90:4<310::AID-AJMG9>3.0.CO;2-N"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31336"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.10.007"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature10955"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.06.022"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1970150713"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.03.015"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1148\/122.2.443"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1224151"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2012-101284"},{"key":"e_1_2_5_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.10.003"},{"issue":"6","key":"e_1_2_5_18_1","first-page":"167","article-title":"An autosomal recessive form of lethal chondrodystrophy with severe thoracic narrowing, rhizoacromelic type of micromelia, polydactyly and genital anomalies","author":"Verma IC","year":"1975","journal-title":"Birth Defects Orig Artic Ser"},{"key":"e_1_2_5_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320550307"}],"container-title":["Congenital 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