{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,16]],"date-time":"2026-05-16T06:59:28Z","timestamp":1778914768354,"version":"3.51.4"},"reference-count":10,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2017,8,3]],"date-time":"2017-08-03T00:00:00Z","timestamp":1501718400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2017,12]]},"abstract":"<jats:p>Metaphyseal anadysplasia (<jats:styled-content style=\"fixed-case\">MANDP<\/jats:styled-content>) is a rare autosomal recessive form of skeletal dysplasia characterized by normal length at birth and transitory bowing of the legs. Although several families with <jats:styled-content style=\"fixed-case\">MANDP<\/jats:styled-content> have been reported, homozygous mutations in the <jats:italic>matrix metalloproteinase type<\/jats:italic> 9 (<jats:italic><jats:styled-content style=\"fixed-case\">MMP9<\/jats:styled-content><\/jats:italic>) gene have been described in only one consanguineous family, and thus the pre and postnatal phenotypic spectrum is still obscure. A clinically similar but more severe type is caused by autosomal\u2010dominant inheritance and is caused by mutations in <jats:italic>matrix metalloproteinase type 13<\/jats:italic> gene (<jats:italic><jats:styled-content style=\"fixed-case\">MMP13<\/jats:styled-content><\/jats:italic>). Here, we report the prenatal and early postnatal course of two affected sib fetuses with early sonographic evidence of long bone shortening and postnatally no metaphyseal changes. Whole\u2010exome sequencing revealed homozygous mutation in <jats:italic><jats:styled-content style=\"fixed-case\">MMP9<\/jats:styled-content><\/jats:italic> in both fetuses suggesting a diagnosis of <jats:styled-content style=\"fixed-case\">MANDP<\/jats:styled-content>. We propose that <jats:styled-content style=\"fixed-case\">MANDP<\/jats:styled-content> should be considered in pregnancies with early prenatal shortening of the long bones without associated finding of lethal skeletal dysplasias. In addition, the finding of homozygous mutation in non\u2010consanguineous parents of Jewish\u2010Caucasus ancestry may suggest unawareness of such relation or the occurrence of a founder mutation in this gene.<\/jats:p>","DOI":"10.1111\/cge.13020","type":"journal-article","created":{"date-parts":[[2017,3,25]],"date-time":"2017-03-25T10:37:35Z","timestamp":1490438255000},"page":"645-648","source":"Crossref","is-referenced-by-count":8,"title":["Prenatal course of metaphyseal anadysplasia associated with homozygous mutation in <i><scp>MMP9<\/scp><\/i> identified by exome sequencing"],"prefix":"10.1111","volume":"92","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6899-9223","authenticated-orcid":false,"given":"R.","family":"Sharony","sequence":"first","affiliation":[{"name":"Medical Genetics Institute Meir Medical Center  Kfar Saba Israel"},{"name":"Department of Obstetrics and Gynecology Meir Medical Center  Kfar Saba Israel"},{"name":"Sackler Faculty of Medicine Tel Aviv University  Tel Aviv Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Z.","family":"Borochowitz","sequence":"additional","affiliation":[{"name":"Rappaport Faculty of Medicine Technion Israeli Institute of Technology  Haifa Israel"},{"name":"Genetics Clinic Assuta Medical Center  Haifa Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L.","family":"Cohen","sequence":"additional","affiliation":[{"name":"Sackler Faculty of Medicine Tel Aviv University  Tel Aviv Israel"},{"name":"Raphael Recanati Genetics Institute Rabin Medical Center, Beilinson Campus  Petah Tikva 4941492 Israel"},{"name":"Pediatric Genetics Unit Schneider Children's Medical Center of Israel  Petah Tikva 49202 Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Shtorch\u2010Asor","sequence":"additional","affiliation":[{"name":"Medical Genetics Institute Meir Medical Center  Kfar Saba Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R.","family":"Rosenfeld","sequence":"additional","affiliation":[{"name":"Medical Genetics Institute Meir Medical Center  Kfar Saba Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.","family":"Modai","sequence":"additional","affiliation":[{"name":"Clinical Operations Variantyx, Inc  Herzliya Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3973-586X","authenticated-orcid":false,"given":"E.","family":"Reinstein","sequence":"additional","affiliation":[{"name":"Medical Genetics Institute Meir Medical Center  Kfar Saba Israel"},{"name":"Sackler Faculty of Medicine Tel Aviv University  Tel Aviv Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2017,8,3]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.06.014"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2014.76"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36431"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22759"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320390103"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19990101)82:1<43::AID-AJMG9>3.0.CO;2-I"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00439884"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/s002470050463"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31492"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M709857200"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fcge.13020","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.13020","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,23]],"date-time":"2023-09-23T17:14:14Z","timestamp":1695489254000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.13020"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,8,3]]},"references-count":10,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2017,12]]}},"alternative-id":["10.1111\/cge.13020"],"URL":"https:\/\/doi.org\/10.1111\/cge.13020","archive":["Portico"],"relation":{},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,8,3]]}}}