{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T02:29:47Z","timestamp":1790908187584,"version":"4.1.0"},"reference-count":41,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2017,2,22]],"date-time":"2017-02-22T00:00:00Z","timestamp":1487721600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100003329","name":"Ministerio de Econom\u00eda y Competitividad","doi-asserted-by":"publisher","award":["SAF2015\u201066831\u2010R"],"award-info":[{"award-number":["SAF2015\u201066831\u2010R"]}],"id":[{"id":"10.13039\/501100003329","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003329","name":"Ministerio de Econom\u00eda y Competitividad","doi-asserted-by":"publisher","award":["SAF2012\u201030871"],"award-info":[{"award-number":["SAF2012\u201030871"]}],"id":[{"id":"10.13039\/501100003329","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2017,7]]},"abstract":"Processing of Precursor 1 (POP1<\/jats:styled-content>) is a large protein common to the ribonuclease\u2010mitochondrial RNA<\/jats:styled-content> processing (RNase\u2010MRP<\/jats:styled-content>) and RNase<\/jats:styled-content>\u2010P (RMRP<\/jats:styled-content>) endoribonucleoprotein complexes. Although its precise function is unknown, it appears to participate in the assembly or stability of both complexes. Numerous RMRP<\/jats:styled-content><\/jats:italic> mutations have been reported in individuals with cartilage\u2010hair hypoplasia (CHH<\/jats:styled-content>) but, to date, only three POP1<\/jats:styled-content><\/jats:italic> mutations have been described in two families with features similar to anauxetic dysplasia (AD<\/jats:styled-content>). We present two further individuals, one with severe short stature and a relatively mild skeletal dysplasia and another in whom AD<\/jats:styled-content> was suspected. Biallelic POP1<\/jats:styled-content><\/jats:italic> mutations were identified in both. A missense mutation and a novel single base deletion were detected in proband 1, p.[Pro582Ser<\/jats:styled-content>]:[Glu870fs*5]. Markedly reduced abundance of RMRP<\/jats:styled-content> and elevated levels of pre5.8s rRNA<\/jats:styled-content> was observed. In proband 2, a homozygous novel POP1<\/jats:styled-content><\/jats:italic> mutation was identified, p.[(Asp511Tyr<\/jats:styled-content>)];[(Asp511Tyr<\/jats:styled-content>)]. These two individuals show the phenotypic extremes in the clinical presentation of POP1<\/jats:styled-content>\u2010dysplasias. Although CHH<\/jats:styled-content> and other skeletal dysplasias caused by mutations in RMRP<\/jats:styled-content><\/jats:italic> or POP1<\/jats:styled-content><\/jats:italic> are commonly cited as ribosomal biogenesis disorders, recent studies question this assumption. We discuss the past and present knowledge about the function of the RMRP<\/jats:styled-content> complex in skeletal development.<\/jats:p>","DOI":"10.1111\/cge.12964","type":"journal-article","created":{"date-parts":[[2017,1,9]],"date-time":"2017-01-09T13:09:43Z","timestamp":1483967383000},"page":"91-98","source":"Crossref","is-referenced-by-count":22,"title":["Broadening the phenotypic spectrum of POP1<\/scp>\u2010skeletal dysplasias: identification of POP1<\/scp> mutations in a mild and severe skeletal dysplasia"],"prefix":"10.1111","volume":"92","author":[{"given":"J.","family":"Barraza\u2010Garc\u00eda","sequence":"first","affiliation":[{"name":"Institute of Medical & Molecular Genetics (INGEMM) Hospital Universitario La Paz, Universidad Aut\u00f3noma de Madrid, IdiPAZ Madrid Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER) Instituto Carlos III Madrid Spain"},{"name":"Multidisciplinary Skeletal dysplasia Unit (UMDE) Hospital 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Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Belinch\u00f3n\u2010Mart\u00ednez","sequence":"additional","affiliation":[{"name":"Institute of Medical & Molecular Genetics (INGEMM) Hospital Universitario La Paz, Universidad Aut\u00f3noma de Madrid, IdiPAZ Madrid Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER) Instituto Carlos III Madrid Spain"},{"name":"Multidisciplinary Skeletal dysplasia Unit (UMDE) Hospital Universitario La Paz Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L.","family":"Sentchordi\u2010Montan\u00e9","sequence":"additional","affiliation":[{"name":"Institute of Medical & Molecular Genetics (INGEMM) Hospital Universitario La Paz, Universidad Aut\u00f3noma de Madrid, IdiPAZ Madrid Spain"},{"name":"Multidisciplinary Skeletal dysplasia Unit (UMDE) Hospital Universitario La Paz Madrid Spain"},{"name":"Department of Pediatric Endocrinology Hospital 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