{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T20:52:13Z","timestamp":1790974333239,"version":"4.1.0"},"reference-count":22,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2024,2,9]],"date-time":"2024-02-09T00:00:00Z","timestamp":1707436800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100019522","name":"JCR Pharmaceuticals","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100019522","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":[[2024,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Biallelic pathogenic variants in <jats:italic>RMRP<\/jats:italic>, the gene encoding the RNA component of RNase mitochondrial RNA processing enzyme complex, have been reported in individuals with cartilage hair hypoplasia (CHH). CHH is prevalent in Finnish and Amish populations due to a founder pathogenic variant, n.71A\u2009&gt;\u2009G. Based on the manifestations in the Finnish and Amish individuals, the hallmarks of CHH are prenatal\u2010onset growth failure, metaphyseal dysplasia, hair hypoplasia, immunodeficiency, and other extraskeletal manifestations. Herein, we report six Japanese individuals with CHH from four families. All probands presented with moderate short stature with mild metaphyseal dysplasia or brachydactyly. One of them had hair hypoplasia and the other immunodeficiency. By contrast, the affected siblings of two families showed only mild short stature. We also reviewed all previously reported 13 Japanese individuals. No n.71A\u2009&gt;\u2009G allele was detected. The proportions of Japanese versus Finnish individuals were 0% versus 70% for birth length\u2009&lt;\u2009\u22122.0 <jats:italic>SD<\/jats:italic>, 84% versus 100% for metaphyseal dysplasia and 26% versus 88% for hair hypoplasia. Milder manifestations in the Japanese individuals may be related to the difference of genotypes. The mildest form of CHH phenotypes is mild short stature without overt skeletal alteration or extraskeletal manifestation and can be termed \u201c<jats:italic>RMRP<\/jats:italic>\u2010related short stature\u201d.<\/jats:p>","DOI":"10.1002\/ajmg.a.63562","type":"journal-article","created":{"date-parts":[[2024,2,10]],"date-time":"2024-02-10T05:33:41Z","timestamp":1707543221000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["<scp><i>RMRP<\/i><\/scp>\u2010related short stature: A report of six additional Japanese individuals with cartilage hair hypoplasia and literature review"],"prefix":"10.1002","volume":"194","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3817-6285","authenticated-orcid":false,"given":"Noboru","family":"Uchida","sequence":"first","affiliation":[{"name":"Department of Pediatrics Keio University School of Medicine  Tokyo Japan"},{"name":"Department of Pediatrics Saiseikai Utsunomiya Hospital  Utsunomiya Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tomohiro","family":"Ishii","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Keio University School of Medicine  Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gen","family":"Nishimura","sequence":"additional","affiliation":[{"name":"Department of Radiology Musashino Yohwakai Hospital  Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takeshi","family":"Sato","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Keio University School of Medicine  Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gen","family":"Kuratsuji","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Niigata Prefectural Central Hospital  Niigata Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5882-661X","authenticated-orcid":false,"given":"Keisuke","family":"Nagasaki","sequence":"additional","affiliation":[{"name":"Division of Pediatrics, Department of Homeostatic Regulation and Development Niigata University Graduate School of Medical and Dental Sciences  Niigata Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuki","family":"Hosokawa","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Kurashiki Central Hospital  Kurashiki Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eriko","family":"Adachi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Developmental Biology Tokyo Medical and University (TMDU)  Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6947-4034","authenticated-orcid":false,"given":"Kei","family":"Takasawa","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Developmental Biology Tokyo Medical and University (TMDU)  Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2505-5932","authenticated-orcid":false,"given":"Kenichi","family":"Kashimada","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Developmental Biology Tokyo Medical and University (TMDU)  Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuko","family":"Tsujioka","sequence":"additional","affiliation":[{"name":"Department of Diagnostic Radiology Keio University School of Medicine  Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tomonobu","family":"Hasegawa","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Keio University School of Medicine  Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2024,2,9]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.0010047"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bone.2004.08.005"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10038-006-0015-3"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12969"},{"key":"e_1_2_9_6_1","first-page":"453","article-title":"The reference range of CD4+ and CD8+ T\u2010lymphocytes in healthy non\u2010infected infants born to HIV\u20101 seropositive mothers; 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