{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,18]],"date-time":"2025-12-18T14:02:50Z","timestamp":1766066570234},"reference-count":17,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2016,3,17]],"date-time":"2016-03-17T00:00:00Z","timestamp":1458172800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Ministerio de Innovaci\u00f3n y Ciencia (MINECO)","award":["SAF2012-30871"],"award-info":[{"award-number":["SAF2012-30871"]}]},{"name":"Comunidad de Madrid (ENDOSCREEN)","award":["S2010\/BMD-2396"],"award-info":[{"award-number":["S2010\/BMD-2396"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2016,6]]},"abstract":"<jats:sec><jats:label \/><jats:p>Progressive pseudorheumatoid dysplasia (PPD) is a rare autosomal recessive disorder characterized by spondyloepiphyseal dysplasia associated with pain and stiffness of multiple joints, enlargement of the interphalangeal joints, normal inflammatory parameters, and absence of extra\u2010skeletal manifestations. Homozygous or compound heterozygous <jats:italic>WISP3<\/jats:italic> mutations cause PPD. We report two siblings from a non\u2010consanguineous Ecuadorian family with a late\u2010onset spondyloepiphyseal dysplasia. Mutation screening was undertaken in the two affected siblings using a customized skeletal dysplasia next generation sequencing (NGS) panel and confirmed by Sanger sequencing. Two compound heterozygous mutations were identified in <jats:italic>WISP3<\/jats:italic> exon 2, c.[190G&gt;A];[197G&gt;A] (p.[(Gly64Arg)];[(Ser66Asn)]) in the two siblings, both of which had been inherited. The p. (Gly64Arg) mutation has not been previously described whilst the p. (Ser66Asn) mutation has been reported in two PPD families. The two siblings presented with atypical PPD, as they presented during late childhood, yet the severity was different between them. The progression was particularly aggressive in the male sibling who suffered severe scoliosis by the age of 13 years. This case reaffirms the clinical heterogeneity of this disorder and the clinical utility of NGS to genetically diagnose skeletal dysplasias, enabling adequate management, monitorization, and genetic counseling. \u00a9 2016 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37619","type":"journal-article","created":{"date-parts":[[2016,3,19]],"date-time":"2016-03-19T07:11:56Z","timestamp":1458371516000},"page":"1595-1599","source":"Crossref","is-referenced-by-count":10,"title":["Early severe scoliosis in a patient with atypical progressive pseudorheumatoid dysplasia (PPD): Identification of two <i>WISP3<\/i> mutations, one previously unreported"],"prefix":"10.1002","volume":"170","author":[{"given":"Lucia Sentchordi","family":"Montan\u00e9","sequence":"first","affiliation":[{"name":"Department of Pediatrics Hospital Universitario Infanta Leonor Madrid Spain"},{"name":"Multidisciplinary Unit for Skeletal dysplasias (UMDE) Hospital Universitario La Paz Madrid Spain"},{"name":"Institute of Medical and Molecular Genetics (INGEMM) Hospital Universitario La Paz, Universidad Aut\u00f3noma de Madrid, IdiPAZ Madrid Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Oliver R.","family":"Mar\u00edn","sequence":"additional","affiliation":[{"name":"Department of Traumatology and Orthopedics Hospital Universitario Infanta Leonor Madrid Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carlos I.","family":"Rivera\u2010Pedroza","sequence":"additional","affiliation":[{"name":"Multidisciplinary Unit for Skeletal dysplasias (UMDE) Hospital Universitario La Paz Madrid Spain"},{"name":"Institute of Medical and Molecular Genetics (INGEMM) Hospital Universitario La Paz, Universidad Aut\u00f3noma de Madrid, IdiPAZ Madrid Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elena","family":"Vallesp\u00edn","sequence":"additional","affiliation":[{"name":"Institute of Medical and Molecular Genetics (INGEMM) Hospital Universitario La Paz, Universidad Aut\u00f3noma de Madrid, IdiPAZ Madrid Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Enfermedades Raras (CIBERER) Instituto Carlos III Madrid Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"\u00c1ngela","family":"del Pozo","sequence":"additional","affiliation":[{"name":"Institute of Medical and Molecular Genetics (INGEMM) Hospital Universitario La Paz, Universidad Aut\u00f3noma de Madrid, IdiPAZ Madrid Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Enfermedades Raras (CIBERER) Instituto Carlos III Madrid Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Karen E.","family":"Heath","sequence":"additional","affiliation":[{"name":"Multidisciplinary Unit for Skeletal dysplasias (UMDE) Hospital Universitario La Paz Madrid Spain"},{"name":"Institute of Medical and Molecular Genetics (INGEMM) Hospital Universitario La Paz, Universidad Aut\u00f3noma de Madrid, IdiPAZ Madrid Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Enfermedades Raras (CIBERER) Instituto Carlos III Madrid Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2016,3,17]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jbspin.2006.11.014"},{"key":"e_1_2_6_3_1","first-page":"1","article-title":"Novel and recurrent mutations in WISP3 and an atypical phenotype","volume":"9999","author":"Bhavani GS","year":"2015","journal-title":"Am J Med Genet Part A"},{"key":"e_1_2_6_4_1","first-page":"1","article-title":"Nosology and classification of genetic skeletal disorders: 2015 revision","volume":"9999","author":"Bonafe L","year":"2015","journal-title":"Am J Med Genet Part A"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35620"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30906"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.semarthrit.2012.09.001"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31333"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/12699"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jbspin.2014.10.005"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2015.03.029"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI32001"},{"key":"e_1_2_6_13_1","first-page":"1650","article-title":"WISP3\u2010IGF1 interaction regulates chondrocyte hypertrophy","volume":"126","author":"Repudi SR","year":"2013","journal-title":"J CellSci"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0038643"},{"key":"e_1_2_6_15_1","doi-asserted-by":"crossref","first-page":"442","DOI":"10.1302\/0301-620X.64B4.6807993","article-title":"Spondyloepiphysial dysplasia tarda with progressive arthropathy","volume":"64","author":"Wynne\u2010Davies R","year":"1982","journal-title":"J Bone Joint Surg Br"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jbspin.2013.03.006"},{"key":"e_1_2_6_17_1","first-page":"190","article-title":"Patients with progressive pseudorheumatoid dysplasia: From clinical diagnosis to molecular studies","volume":"2012","author":"Ye J","year":"2012","journal-title":"Mol Med Rep"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bone.2008.11.005"}],"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.37619","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.37619","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,6]],"date-time":"2023-10-06T09:49:39Z","timestamp":1696585779000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.37619"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,3,17]]},"references-count":17,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2016,6]]}},"alternative-id":["10.1002\/ajmg.a.37619"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.37619","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,3,17]]}}}