{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,10]],"date-time":"2026-07-10T02:16:46Z","timestamp":1783649806200,"version":"3.55.0"},"reference-count":25,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2015,2,25]],"date-time":"2015-02-25T00:00:00Z","timestamp":1424822400000},"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":[[2015,5]]},"abstract":"<jats:sec><jats:label\/><jats:p>Distal arthrogryposis (DA) encompasses a heterogeneous group of hereditary disorders with multiple congenital contractures predominant in the distal extremities. A total of 10 subtypes are proposed based on the pattern of contractures and association with extraarticular symptoms. DA5 is defined as a subtype with ptosis\/oculomotor limitation. However, affected individuals have a variety of non\u2010ocular features as well. We report on a two\u2010generation family, including four affected individuals who all had congenital contractures of the distal joints, ptosis, restricted ocular movements, distinct facial appearance with deep\u2010set eyes, and shortening of the 1st and 5th toes. The proband and her affected mother had restrictive lung disease, a recently recognized syndromic component of DA5, while younger patients did not. The proband had metacarpal and metatarsal synostosis, and the mother showed excavation of the optic disk. Whole\u2010exome sequencing revealed a novel heterozygous mutation c.4456G&gt;C (p.A1486P) of <jats:italic>PIEZO2. PIEZO2<\/jats:italic> encodes a mechanosensitive ion channel, malfunction of which provides pleiotropic effects on joints, ocular muscles, lung function, and bone development. \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36881","type":"journal-article","created":{"date-parts":[[2015,2,25]],"date-time":"2015-02-25T11:34:22Z","timestamp":1424864062000},"page":"1100-1106","source":"Crossref","is-referenced-by-count":43,"title":["A family of distal arthrogryposis type 5 due to a novel <i>PIEZO2<\/i> mutation"],"prefix":"10.1002","volume":"167","author":[{"given":"Mariko","family":"Okubo","sequence":"first","affiliation":[{"name":"Department of Child Neurology National Center of Neurology and Psychiatry Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Atsushi","family":"Fujita","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Yokohama City University Graduate School of Medicine Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoshiaki","family":"Saito","sequence":"additional","affiliation":[{"name":"Department of Child Neurology National Center of Neurology and Psychiatry Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hirofumi","family":"Komaki","sequence":"additional","affiliation":[{"name":"Department of Child Neurology National Center of Neurology and Psychiatry Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Akihiko","family":"Ishiyama","sequence":"additional","affiliation":[{"name":"Department of Child Neurology National Center of Neurology and Psychiatry Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eri","family":"Takeshita","sequence":"additional","affiliation":[{"name":"Department of Child Neurology National Center of Neurology and Psychiatry Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emiko","family":"Kojima","sequence":"additional","affiliation":[{"name":"Department of Child Neurology National Center of Neurology and Psychiatry Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Reiko","family":"Koichihara","sequence":"additional","affiliation":[{"name":"Department of Child Neurology National Center of Neurology and Psychiatry Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takashi","family":"Saito","sequence":"additional","affiliation":[{"name":"Department of Child Neurology National Center of Neurology and Psychiatry Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eiji","family":"Nakagawa","sequence":"additional","affiliation":[{"name":"Department of Child Neurology National Center of Neurology and Psychiatry Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kenji","family":"Sugai","sequence":"additional","affiliation":[{"name":"Department of Child Neurology National Center of Neurology and Psychiatry Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hiroko","family":"Yamazaki","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology National Center of Neurology and Psychiatry Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kei","family":"Kusaka","sequence":"additional","affiliation":[{"name":"Center for Pulmonary Disease National Hospital Organization Tokyo National Hospital Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hiroshi","family":"Tanaka","sequence":"additional","affiliation":[{"name":"Department of Orthopedics National Rehabilitation Center for Children with Disabilities Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Noriko","family":"Miyake","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Yokohama City University Graduate School of Medicine Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Naomichi","family":"Matsumoto","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Yokohama City University Graduate School of Medicine Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masayuki","family":"Sasaki","sequence":"additional","affiliation":[{"name":"Department of Child Neurology National Center of Neurology and Psychiatry Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2015,2,25]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19961111)65:4<277::AID-AJMG6>3.0.CO;2-M"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.2106\/JBJS.I.00281"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30289"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32668"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1221400110"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1193270"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pcbi.1001025"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/dds514"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddp587"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320110208"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320200302"},{"key":"e_1_2_6_13_1","first-page":"141","article-title":"Arthrogryposis multiplex congenital and the Turner phenotype","volume":"123","author":"Krieger I","year":"1972","journal-title":"Am J Dis Child"},{"key":"e_1_2_6_14_1","unstructured":"McMillinMJ BeckAE PinnerJ MehtaSG GrangeDK GogolaGR HechtJT HarrisDJ JagadeeshS GaravelliL EarlDL BamshadMJ.2011. Distal arthrogryposis type 5D: A new autosomal recessive syndrome. Program 241. (Abstract) Annual Meeting of the American Society of Human Genetics: Montreal Canada."},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.11.014"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2014.03.015"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(20001218)95:5<477::AID-AJMG13>3.0.CO;2-M"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1978.tb02096.x"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20634"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.30.1.78"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1086\/368294"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000256339.40667.fb"},{"key":"e_1_2_6_23_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1775"},{"key":"e_1_2_6_24_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31648"},{"key":"e_1_2_6_25_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cub.2010.09.053"},{"key":"e_1_2_6_26_1","doi-asserted-by":"crossref","first-page":"204","DOI":"10.3928\/0191-3913-19890701-11","article-title":"Ophthalmologic findings associated with arthrogryposis multiplex congenital: Case report and review of the literature","volume":"26","author":"Zeiter JH","year":"1989","journal-title":"J Pediatr Ophthalmol Strabismus"}],"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.36881","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.36881","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,6]],"date-time":"2023-10-06T12:52:50Z","timestamp":1696596770000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.36881"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,2,25]]},"references-count":25,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2015,5]]}},"alternative-id":["10.1002\/ajmg.a.36881"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.36881","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,2,25]]}}}