{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T09:42:56Z","timestamp":1790934176276,"version":"4.1.0"},"reference-count":13,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2015,3,21]],"date-time":"2015-03-21T00:00:00Z","timestamp":1426896000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Brazil-Switzerland Joint Research Program CoSMO-B"},{"name":"Swiss National Foundation"},{"name":"University of Lausanne (Fonds de D\u00e9veloppement de la Recherche en P\u00e9diatrie)"},{"name":"Leenaards Foundation in Lausanne (www.leenaards.ch)"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2015,7]]},"abstract":"<jats:sec><jats:label\/><jats:p>Cerebral, ocular, dental, auricular, skeletal anomalies (CODAS) syndrome (MIM 600373) was first described and named by Shehib et al, in 1991 in a single patient. The anomalies referred to in the acronym are as follows: cerebral\u2010developmental delay, ocular\u2010cataracts, dental\u2010aberrant cusp morphology and delayed eruption, auricular\u2010malformations of the external ear, and skeletal\u2010spondyloepiphyseal dysplasia. This distinctive constellation of anatomical findings should allow easy recognition but despite this only four apparently sporadic patients have been reported in the last 20 years indicating that the full phenotype is indeed very rare with perhaps milder or a typical presentations that are allelic but without sufficient phenotypic resemblance to permit clinical diagnosis. We performed exome sequencing in three patients (an isolated case and a brother and sister sib pair) with classical features of CODAS. Sanger sequencing was used to confirm results as well as for mutation discovery in a further four unrelated patients ascertained via their skeletal features. Compound heterozygous or homozygous mutations in <jats:italic>LONP1<\/jats:italic> were found in all (8 separate mutations; 6 missense, 1 nonsense, 1 small in\u2010frame deletion) thus establishing the genetic basis of CODAS and the pattern of inheritance (autosomal recessive). <jats:italic>LONP1<\/jats:italic> encodes an enzyme of bacterial ancestry that participates in protein turnover within the mitochondrial matrix. The mutations cluster at the ATP\u2010binding and proteolytic domains of the enzyme. Biallelic inheritance and clustering of mutations confirm dysfunction of <jats:italic>LONP1<\/jats:italic> activity as the molecular basis of CODAS but the pathogenesis remains to be explored. \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37029","type":"journal-article","created":{"date-parts":[[2015,3,24]],"date-time":"2015-03-24T18:00:38Z","timestamp":1427220038000},"page":"1501-1509","source":"Crossref","is-referenced-by-count":82,"title":["Mutations in <i>LONP1<\/i>, a mitochondrial matrix protease, cause CODAS syndrome"],"prefix":"10.1002","volume":"167","author":[{"given":"Esra","family":"Dikoglu","sequence":"first","affiliation":[{"name":"Centre des Maladies Mol\u00e9culaires CHUV University of Lausanne Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ali","family":"Alfaiz","sequence":"additional","affiliation":[{"name":"Center for Integrative Genomics (CIG) University of Lausanne Lausanne 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C.","family":"Llerenar Jr","sequence":"additional","affiliation":[{"name":"Centro de Gen\u00e9tica M\u00e9dica Instituto Fernandes Fugueira\/Fiocruz Rio de Janeiro Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guillerme","family":"Yamamoto","sequence":"additional","affiliation":[{"name":"Genetics Unit Instituto da Crian\u00e7a HC\/FMUSP Sao Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giulio","family":"Superti\u2010Furga","sequence":"additional","affiliation":[{"name":"Research Center for Molecular Medicine of the Austrian Academy of Sciences Vienna Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexandre","family":"Reymond","sequence":"additional","affiliation":[{"name":"Center for Integrative Genomics (CIG) University of Lausanne Lausanne Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ioannis","family":"Xenarios","sequence":"additional","affiliation":[{"name":"Swiss 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