{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T02:30:01Z","timestamp":1790908201965,"version":"4.1.0"},"reference-count":21,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2019,6,27]],"date-time":"2019-06-27T00:00:00Z","timestamp":1561593600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001843","name":"Science and Engineering Research Board","doi-asserted-by":"publisher","award":["DST\/SERB Grant number: SB\/SO\/HS\/005\/2014"],"award-info":[{"award-number":["DST\/SERB Grant number: SB\/SO\/HS\/005\/2014"]}],"id":[{"id":"10.13039\/501100001843","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":[[2019,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Cartilage hair hypoplasia (CHH), anauxetic dysplasia 1, and anauxetic dysplasia 2 are rare metaphyseal dysplasias caused by biallelic pathogenic variants in <jats:italic>RMRP<\/jats:italic> and <jats:italic>POP1<\/jats:italic>, which encode the components of RNAse\u2010MRP endoribonuclease complex (RMRP) in ribosomal biogenesis pathway. Nucleolus and neural progenitor protein (NEPRO), encoded by <jats:italic>NEPRO<\/jats:italic> (<jats:italic>C3orf17<\/jats:italic>), is known to interact with multiple protein subunits of RMRP. We ascertained a 6\u2010year\u2010old girl with skeletal dysplasia and some features of CHH. <jats:italic>RMRP<\/jats:italic> and <jats:italic>POP1<\/jats:italic> did not harbor any causative variant in the proband. Parents\u2010child trio exomes revealed a candidate biallelic variant, c.435G&gt;C, p.(Leu145Phe) in <jats:italic>NEPRO<\/jats:italic>. Two families with four affected individuals with skeletal dysplasia and a homozygous missense variant, c.280C&gt;T, p.(Arg94Cys) in <jats:italic>NEPRO<\/jats:italic>, were identified from literature and their published phenotype was compared in detail to the phenotype of the child we described. All the five affected individuals have severe short stature, brachydactyly, skin laxity, joint hypermobility, and joint dislocations. They also have short metacarpals, broad middle phalanges, and metaphyseal irregularities. Protein modeling and stability prediction showed that the mutant protein has decreased stability. Both the reported variants are in the same domain of the protein. Our report delineates the clinical and radiological characteristics of an emerging ribosomopathy caused by biallelic variants in <jats:italic>NEPRO<\/jats:italic>.<\/jats:p>","DOI":"10.1002\/ajmg.a.61267","type":"journal-article","created":{"date-parts":[[2019,6,28]],"date-time":"2019-06-28T04:09:21Z","timestamp":1561694961000},"page":"1709-1717","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":17,"title":["An emerging ribosomopathy affecting the skeleton due to biallelic variations in <i>NEPRO<\/i>"],"prefix":"10.1002","volume":"179","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1627-3252","authenticated-orcid":false,"given":"Dhanya L.","family":"Narayanan","sequence":"first","affiliation":[{"name":"Department of Medical Genetics Kasturba Medical College, Manipal, Manipal Academy of Higher Education  Manipal India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2471-4094","authenticated-orcid":false,"given":"Anju","family":"Shukla","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Kasturba Medical College, Manipal, Manipal Academy of Higher Education  Manipal India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Neethukrishna","family":"Kausthubham","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Kasturba Medical College, Manipal, Manipal Academy of Higher Education  Manipal India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gandham S.","family":"Bhavani","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Kasturba Medical College, Manipal, Manipal Academy of Higher Education  Manipal 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India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2019,6,27]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gku1205"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12964"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gki375"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1002027"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/dgd.12232"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1101\/gad.1228804"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkw1039"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.tibs.2017.05.005"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature19057"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btp324"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2018.50"},{"key":"e_1_2_8_13_1","volume-title":"GeneReviews([R])","author":"Makitie 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