{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T02:30:00Z","timestamp":1790908200427,"version":"4.1.0"},"reference-count":9,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2016,7,6]],"date-time":"2016-07-06T00:00:00Z","timestamp":1467763200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2016,9]]},"abstract":"<jats:sec><jats:label\/><jats:p>Anauxetic dysplasia (AAD, OMIM 607095) is a rare skeletal dysplasia inherited as an autosomal recessive trait, which is caused by mutations in <jats:italic>RMRP<\/jats:italic> and allelic to a more common disorder, cartilage hair hypoplasia (CHH). CHH is a multi\u2010system disorder with a variety of extraskeletal changes. Whereas AAD is a bone\u2010restricted disorder with a more severe skeletal phenotype: affected individuals are extremely short and complicated by orthopedic morbidity, and the radiological changes include modification of the vertebral bodies and epiphyseal dysplasia of the hip, as well as generalized metaphyseal dysplasia and severe brachydactyly. Recently, genetic heterogeneity for AAD was proposed, because a familial case (two affected sibs) with an AAD\u2010identical phenotype had compound heterozygous mutations in <jats:italic>POP1<\/jats:italic>, encoding a molecule functionally related to the gene product of <jats:italic>RMRP<\/jats:italic>. We report here a 5\u2010year\u2010old boy with the same phenotype born to a consanguineous couple. We identified a novel homozygous <jats:italic>POP1<\/jats:italic> mutation (c.1744C&gt;T, p.P582S) in the boy and the heterozygosity in the parents. It may be rational to coin the <jats:italic>POP1<\/jats:italic>\u2010associated skeletal phenotype AAD type 2. \u00a9 2016 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37839","type":"journal-article","created":{"date-parts":[[2016,7,6]],"date-time":"2016-07-06T05:53:19Z","timestamp":1467784399000},"page":"2462-2465","source":"Crossref","is-referenced-by-count":23,"title":["Further evidence of <i>POP1<\/i> mutations as the cause of anauxetic dysplasia"],"prefix":"10.1002","volume":"170","author":[{"given":"Siham Chafai","family":"Elalaoui","sequence":"first","affiliation":[{"name":"Facult\u00e9 de M\u00e9decine et de Pharmacie, Centre de G\u00e9nomique Humaine Universit\u00e9 Mohammed V. Souissi Rabat Morocco"},{"name":"D\u00e9partement de G\u00e9n\u00e9tique M\u00e9dicale Institut National d'Hygi\u00e8ne Rabat Morocco"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fatima Zahra","family":"Laarabi","sequence":"additional","affiliation":[{"name":"D\u00e9partement de G\u00e9n\u00e9tique M\u00e9dicale Institut National d'Hygi\u00e8ne Rabat Morocco"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Mansouri","sequence":"additional","affiliation":[{"name":"Facult\u00e9 de M\u00e9decine et de Pharmacie, Centre de G\u00e9nomique Humaine Universit\u00e9 Mohammed V. Souissi Rabat Morocco"},{"name":"D\u00e9partement de G\u00e9n\u00e9tique M\u00e9dicale Institut National d'Hygi\u00e8ne Rabat Morocco"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nidal Alaoui","family":"Mrani","sequence":"additional","affiliation":[{"name":"Facult\u00e9 de M\u00e9decine et de Pharmacie, Centre de G\u00e9nomique Humaine Universit\u00e9 Mohammed V. Souissi Rabat Morocco"},{"name":"Service de Chirurgie P\u00e9diatrique H\u00f4pital d'Enfants Rabat Morocco"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gen","family":"Nishimura","sequence":"additional","affiliation":[{"name":"Department of Pediatric Imaging Tokyo Metropolitan Children's Medical Center Fuchu Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abdelaziz","family":"Sefiani","sequence":"additional","affiliation":[{"name":"Facult\u00e9 de M\u00e9decine et de Pharmacie, Centre de G\u00e9nomique Humaine Universit\u00e9 Mohammed V. Souissi Rabat Morocco"},{"name":"D\u00e9partement de G\u00e9n\u00e9tique M\u00e9dicale Institut National d'Hygi\u00e8ne Rabat Morocco"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2016,7,6]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1261\/rna.2214510"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1002027"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.38.4.262"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1101\/gad.8.12.1423"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19960503)63:1<80::AID-AJMG16>3.0.CO;2-Q"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1086\/497708"},{"key":"e_1_2_6_8_1","first-page":"1993","volume-title":"GeneReviews\u00ae [Internet]","author":"Thiel CT","year":"2012"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkh539"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1261\/rna.23206"}],"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.37839","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.37839","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.37839","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,6]],"date-time":"2023-10-06T23:39:19Z","timestamp":1696635559000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.37839"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,7,6]]},"references-count":9,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2016,9]]}},"alternative-id":["10.1002\/ajmg.a.37839"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.37839","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,7,6]]}}}