{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,8,26]],"date-time":"2023-08-26T12:10:47Z","timestamp":1693051847442},"reference-count":10,"publisher":"Wiley","issue":"15","license":[{"start":{"date-parts":[[2021,6,22]],"date-time":"2021-06-22T00:00:00Z","timestamp":1624320000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Birth Defects Research"],"published-print":{"date-parts":[[2021,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Currarino syndrome (CS) is a rare genetic condition characterized by the association of three major clinical signs: anorectal malformation (ARM), sacro\u2010coccygeal bone defects, and presacral mass. Different kinds of ARM can be present such as anteriorly placed anus, imperforate anus, anorectal stenosis, rectal duplication, and fistulae. The presacral mass can be a benign teratoma, a dermoid or neurenteric cyst, anterior meningocele or hamartoma. Females are more frequently affected and usually present with associated gynecologic and urinary tract problems. CS is considered an autosomal dominant trait, with reduced penetrance and variable expressivity. CS is associated with mutations in the <jats:italic>MNX1<\/jats:italic> gene (motor neuron and pancreas homeobox\u20101, previously known as <jats:italic>HLXB9<\/jats:italic>) mapped to chromosome 7q36. Heterozygous loss\u2010of\u2010function mutations in the coding sequence of <jats:italic>MNX1<\/jats:italic> gene have been reported in nearly all familial CS cases and in approximately 30% of CS sporadic patients.<\/jats:p><\/jats:sec><jats:sec><jats:title>Case<\/jats:title><jats:p>Here, we present the case of a woman with features of CS carrying a mosaic mutation in the coding region of <jats:italic>MNX1<\/jats:italic> gene. This is the only reported case of a CS diagnosis in which the mutation is present in less than 50% of cells.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>The lower detection rate of <jats:italic>MNX1<\/jats:italic> mutations in sporadic cases could similarly be explained by somatic mosaicism, mutations occurring outside the coding regions, or genetic heterogeneity.<\/jats:p><\/jats:sec>","DOI":"10.1002\/bdr2.1936","type":"journal-article","created":{"date-parts":[[2021,6,22]],"date-time":"2021-06-22T13:49:20Z","timestamp":1624369760000},"page":"1161-1165","update-policy":"http:\/\/dx.doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["The first case of mosaic <scp><i>MNX1<\/i><\/scp> mutation in an adult female with features of Currarino syndrome"],"prefix":"10.1002","volume":"113","author":[{"given":"Ferruccio","family":"Romano","sequence":"first","affiliation":[{"name":"Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics and Maternal\/Child Sciences (DINOGMI) University of Genoa  Genoa Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Patrizia","family":"De Marco","sequence":"additional","affiliation":[{"name":"UOC Genetica Medica Istituto Giannina Gaslini  Genoa Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marzia","family":"Ognibene","sequence":"additional","affiliation":[{"name":"UOC Genetica Medica Istituto Giannina Gaslini  Genoa Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marco","family":"Di Duca","sequence":"additional","affiliation":[{"name":"UOC Genetica Medica Istituto Giannina Gaslini  Genoa Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Simona","family":"Baldassari","sequence":"additional","affiliation":[{"name":"UOC Genetica Medica Istituto Giannina Gaslini  Genoa Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marco","family":"Pavanello","sequence":"additional","affiliation":[{"name":"UOC Neurochirurgia Istituto Giannina Gaslini  Genoa Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gianluca","family":"Piatelli","sequence":"additional","affiliation":[{"name":"UOC Neurochirurgia Istituto Giannina Gaslini  Genoa Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Federico","family":"Zara","sequence":"additional","affiliation":[{"name":"Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics and Maternal\/Child Sciences (DINOGMI) University of Genoa  Genoa Italy"},{"name":"UOC Genetica Medica Istituto Giannina Gaslini  Genoa Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Valeria","family":"Capra","sequence":"additional","affiliation":[{"name":"UOC Genetica Medica Istituto Giannina Gaslini  Genoa Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2021,6,22]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1086\/302723"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpedsurg.2009.03.039"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.1086\/302899"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0995-93"},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2013.09.011"},{"key":"e_1_2_4_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_4_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20980"},{"key":"e_1_2_4_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/3828"},{"key":"e_1_2_4_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.wneu.2020.03.057"},{"issue":"9","key":"e_1_2_4_11_1","doi-asserted-by":"crossref","first-page":"2162","DOI":"10.1038\/s41436-019-0461-x","article-title":"Correction: Genomic mosaicism in the pathogenesis and inheritance of a Rett syndrome cohort","volume":"21","author":"Zhang Q.","year":"2019","journal-title":"Genetics in Medicine"}],"container-title":["Birth Defects 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