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Recently, five patients harboring mutations in <jats:italic>POP1<\/jats:italic> have been reported with severe spondylo\u2010epi\u2010metaphyseal dysplasia and extremely short stature. We report a unique clinical phenotype resulting from the novel homozygous R211Q <jats:italic>POP1<\/jats:italic> mutation in three patients from one family, presenting with severe short stature but only subtle skeletal dysplastic changes that are merely metaphyseal. The RNA moiety of the RNase\u2010MRP complex quantified in RNA extracted from peripheral lymphocytes was dramatically reduced in affected patients indicating instability of the enzymatic complex. However, pre5.8s rRNA, a substrate of RNase\u2010MRP complex, was not accumulated in patients' RNA unlike in the previously reported <jats:italic>POP1<\/jats:italic> mutations; this may explain the uniquely mild phenotype in our cases, and questions the assumption that alteration in ribosomal biogenesis is the pathophysiological basis for skeletal disorders caused by <jats:italic>POP1<\/jats:italic> mutations. Finally, <jats:italic>POP1<\/jats:italic> mutations should be considered in familial cases with severe short stature even when skeletal dysplasia is not strongly evident.<\/jats:p>","DOI":"10.1002\/ajmg.a.61538","type":"journal-article","created":{"date-parts":[[2020,3,5]],"date-time":"2020-03-05T12:28:56Z","timestamp":1583411336000},"page":"1268-1272","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["The novel R211Q <scp><i>POP1<\/i><\/scp> homozygous mutation causes different pathogenesis and skeletal changes from those of previously reported <scp><i>POP1<\/i><\/scp>\u2010associated anauxetic dysplasia"],"prefix":"10.1002","volume":"182","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6033-5318","authenticated-orcid":false,"given":"Maha","family":"Abdulhadi\u2010Atwan","sequence":"first","affiliation":[{"name":"Pediatric Endocrinology Service, Palestine Red Crescent Society Hospital  Hebron 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