{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,19]],"date-time":"2026-10-19T23:18:50Z","timestamp":1792451930650,"version":"4.5.0"},"reference-count":35,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2019,6,9]],"date-time":"2019-06-09T00:00:00Z","timestamp":1560038400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100007812","name":"University of Washington","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100007812","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2019,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p><jats:italic>SERPINH1<\/jats:italic> encodes the collagen chaperone HSP47 that binds to arginine\u2010rich sequences in the type I procollagen trimers and provides the final steps in the folding and stabilization of the triple helical domain. Loss of both alleles in mice results in very early embryonic lethality. <jats:italic>SERPINH1<\/jats:italic> mutations have been associated with one of the rarest forms of recessively inherited osteogenesis imperfecta (OI) with a moderate to severe phenotype. We identified a family with non\u2010consanguineous unaffected parents who had two children with moderate short stature, low bone density, and fractures. Both children were compound heterozygotes for two mutations: a frameshift in the last exon that deleted the RER retention signal, and a 5,274\u2009bp deletion 2.37\u2009kb upstream from the transcription start site. The maternally\u2010inherited frameshift allele was expressed at normal levels, but the protein was unstable. The mRNA encoded by the second allele represented about 50% of that from the frameshift\u2010containing allele. The upstream deletion was inherited from the father, and the mRNA encoded by that allele in his cultured dermal fibroblasts was also expressed at a low level, which confirmed that this domain had a regulatory function for <jats:italic>SERPINH1<\/jats:italic>. Regulatory mutations are uncommon causes of human genetic disorders, and the ability to measure expression levels in appropriate cells is key to their identification.<\/jats:p>","DOI":"10.1002\/ajmg.a.61170","type":"journal-article","created":{"date-parts":[[2019,6,10]],"date-time":"2019-06-10T05:09:42Z","timestamp":1560143382000},"page":"1466-1475","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Compound heterozygosity for a frameshift mutation and an upstream deletion that reduces expression of <i>SERPINH1<\/i> in siblings with a moderate form of osteogenesis imperfecta"],"prefix":"10.1002","volume":"179","author":[{"given":"Ulrike","family":"Schwarze","sequence":"first","affiliation":[{"name":"Department of Pathology University of Washington  Seattle Washington"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tim","family":"Cundy","sequence":"additional","affiliation":[{"name":"Department of Medicine, Faculty of Medical &amp; Health Sciences University of Auckland  New Zealand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6040-3109","authenticated-orcid":false,"given":"Yajuan J.","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Pathology University of Washington  Seattle Washington"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul L.","family":"Hofman","sequence":"additional","affiliation":[{"name":"Liggins Institute, Faculty of Medical &amp; Health Sciences University of Auckland  New Zealand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7786-7030","authenticated-orcid":false,"given":"Peter H.","family":"Byers","sequence":"additional","affiliation":[{"name":"Department of Pathology University of Washington  Seattle Washington"},{"name":"Department of Medicine (Medical Genetics) University of Washington  Seattle Washington"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2019,6,9]]},"reference":[{"issue":"3","key":"e_1_2_6_2_1","doi-asserted-by":"crossref","first-page":"1734","DOI":"10.1016\/S0021-9258(18)89655-7","article-title":"Altered triple helical structure of type I procollagen in lethal perinatal osteogenesis imperfecta","volume":"260","author":"Bonadio J.","year":"1985","journal-title":"The Journal of Biological Chemistry"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev-genet-110711-155608"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20456"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.06.005"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.01.034"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1000579"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddu608"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1136\/vr.101122"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.331"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.10.2.258"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.274.50.35703"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbamcr.2013.04.008"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.semcdb.2016.11.005"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2466-14-48"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2466-8-23"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M601369200"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M106497200"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20455"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2013-1505"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrdp.2017.52"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2016.09.035"},{"key":"e_1_2_6_23_1","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.150.6.1499"},{"key":"e_1_2_6_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.semcdb.2003.09.020"},{"key":"e_1_2_6_25_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0968-0004(98)01208-0"},{"key":"e_1_2_6_26_1","doi-asserted-by":"publisher","DOI":"10.1080\/21541264.2016.1253529"},{"key":"e_1_2_6_27_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2012-101307"},{"key":"e_1_2_6_28_1","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.133.2.469"},{"key":"e_1_2_6_29_1","doi-asserted-by":"publisher","DOI":"10.1097\/MOP.0000000000000283"},{"key":"e_1_2_6_30_1","doi-asserted-by":"publisher","DOI":"10.1086\/420794"},{"key":"e_1_2_6_31_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.06.011"},{"key":"e_1_2_6_32_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.270.31.18323"},{"key":"e_1_2_6_33_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00198-018-4448-2"},{"key":"e_1_2_6_34_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-8-154"},{"key":"e_1_2_6_35_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0036809"},{"key":"e_1_2_6_36_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1208072109"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.61170","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.61170","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.61170","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,10]],"date-time":"2023-09-10T06:25:33Z","timestamp":1694327133000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.61170"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,6,9]]},"references-count":35,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2019,8]]}},"alternative-id":["10.1002\/ajmg.a.61170"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.61170","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,6,9]]},"assertion":[{"value":"2018-10-22","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-04-15","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-06-09","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}