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Dominantly inherited mutations in <jats:italic>COMP<\/jats:italic>, <jats:italic>MATN3<\/jats:italic>, <jats:italic>COL9A1<\/jats:italic>, <jats:italic>COL9A2<\/jats:italic>, and <jats:italic>COL9A3<\/jats:italic>, and recessively inherited mutations in <jats:italic>SLC26A2<\/jats:italic>, account for the molecular basis of disease in about 80\u201385% of the cases. In two families with recurrent MED of an unknown molecular basis, we used exome sequencing and candidate gene analysis to identify homozygosity for recessively inherited missense mutations in <jats:italic>CANT1<\/jats:italic>, which encodes calcium\u2010activated nucleotidase 1. The MED phenotype is thus allelic to the more severe Desbuquois dysplasia phenotype and the results identify <jats:italic>CANT1<\/jats:italic> as a second locus for recessively inherited MED.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.38349","type":"journal-article","created":{"date-parts":[[2017,7,25]],"date-time":"2017-07-25T12:32:50Z","timestamp":1500985970000},"page":"2415-2421","source":"Crossref","is-referenced-by-count":29,"title":["<scp>MED<\/scp> resulting from recessively inherited mutations in the gene encoding calcium\u2010activated nucleotidase <scp>CANT1<\/scp>"],"prefix":"10.1002","volume":"173","author":[{"given":"Karthika","family":"Balasubramanian","sequence":"first","affiliation":[{"name":"Department of Molecular Cell and Developmental Biology University of California Los Angeles Los Angeles California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bing","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Molecular Cell and Developmental Biology University of California Los Angeles Los Angeles California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9906-4968","authenticated-orcid":false,"given":"Deborah","family":"Krakow","sequence":"additional","affiliation":[{"name":"Department of Orthopaedic Surgery University of California Los Angeles Los Angeles California"},{"name":"Department of Human Genetics University of California Los Angeles Los Angeles California"},{"name":"International Skeletal Dysplasia Registry University of California Los Angeles Los Angeles California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lisette","family":"Nevarez","sequence":"additional","affiliation":[{"name":"Department of Molecular Cell and Developmental Biology University of California Los Angeles Los Angeles California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patric J.","family":"Ho","sequence":"additional","affiliation":[{"name":"Department of Molecular Cell and Developmental Biology University of California Los Angeles Los Angeles California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julia A.","family":"Ainsworth","sequence":"additional","affiliation":[{"name":"Department of Molecular Cell and Developmental Biology University of California Los Angeles Los Angeles California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Deborah A.","family":"Nickerson","sequence":"additional","affiliation":[{"name":"Department of Genome Sciences University of Washington Seattle Washington"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael J.","family":"Bamshad","sequence":"additional","affiliation":[{"name":"Department of Genome Sciences University of Washington Seattle Washington"},{"name":"Department of Pediatrics University of Washington Seattle Washington"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"LaDonna","family":"Immken","sequence":"additional","affiliation":[{"name":"Specially For Children Genetics Austin Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ralph S.","family":"Lachman","sequence":"additional","affiliation":[{"name":"International Skeletal Dysplasia Registry University of California Los Angeles Los Angeles California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0388-4457","authenticated-orcid":false,"given":"Daniel H.","family":"Cohn","sequence":"additional","affiliation":[{"name":"Department of Molecular Cell and Developmental Biology University of California Los Angeles Los Angeles California"},{"name":"Department of Orthopaedic Surgery University of California Los Angeles Los Angeles California"},{"name":"International Skeletal Dysplasia Registry University of California Los Angeles Los Angeles California"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2017,7,25]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth0410-248"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/art.24979"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.matbio.2007.11.007"},{"key":"e_1_2_8_5_1","volume-title":"GeneReviews\u00ae Seattle","author":"Bonaf\u00e9 L.","year":"2002"},{"key":"e_1_2_8_6_1","volume-title":"GeneReviews\u00ae Seattle","author":"Briggs M. 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