{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,12]],"date-time":"2026-07-12T02:29:33Z","timestamp":1783823373542,"version":"3.55.0"},"reference-count":33,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2015,3,15]],"date-time":"2015-03-15T00:00:00Z","timestamp":1426377600000},"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":[[2016,1]]},"abstract":"<jats:p>Currarino syndrome (<jats:styled-content style=\"fixed-case\">OMIM<\/jats:styled-content> 175450) presents with sacral, anorectal, and intraspinal anomalies and presacral meningocele or teratoma. Autosomal dominant loss\u2010of\u2010function mutations in the <jats:italic><jats:styled-content style=\"fixed-case\">MNX1<\/jats:styled-content><\/jats:italic> gene cause nearly all familial and 30% of sporadic cases. Less frequently, a complex phenotype of Currarino syndrome can be caused by microdeletions of 7q containing <jats:italic><jats:styled-content style=\"fixed-case\">MNX1<\/jats:styled-content><\/jats:italic>. Here, we report one familial and three sporadic cases of Currarino syndrome. To determine the most efficient genetic testing approach for these patients, we have compared results from <jats:italic><jats:styled-content style=\"fixed-case\">MNX1<\/jats:styled-content><\/jats:italic> sequencing, chromosomal microarray, and performed a literature search with analysis of genotype\u2013phenotype correlation. Based on the relationship between the type of mutation (intragenic <jats:italic><jats:styled-content style=\"fixed-case\">MNX1<\/jats:styled-content><\/jats:italic> mutations <jats:italic>vs<\/jats:italic> 7q microdeletion) and the presence of intellectual disability, growth retardation, facial dysmorphism, and associated malformations, we propose a testing algorithm. Patients with the classic Currarino triad of malformations but normal growth, intellect, and facial appearance should have <jats:italic><jats:styled-content style=\"fixed-case\">MNX1<\/jats:styled-content><\/jats:italic> sequencing first, and only in the event of a normal result should the clinician proceed with chromosomal microarray testing. In contrast, if growth delay and\/or facial dysmorphy and\/or intellectual disability are present, chromosomal microarray should be the first method of choice for genetic testing.<\/jats:p>","DOI":"10.1111\/cge.12572","type":"journal-article","created":{"date-parts":[[2015,2,18]],"date-time":"2015-02-18T07:13:31Z","timestamp":1424243611000},"page":"109-114","source":"Crossref","is-referenced-by-count":13,"title":["Phenotype analysis impacts testing strategy in patients with Currarino syndrome"],"prefix":"10.1111","volume":"89","author":[{"given":"G.","family":"Cuturilo","sequence":"first","affiliation":[{"name":"Faculty of Medicine University of Belgrade  Belgrade Serbia"},{"name":"Department of Medical Genetics University Children's Hospital  Belgrade Serbia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.C.","family":"Hodge","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine and Pathology Mayo Clinic  Rochester MN USA"},{"name":"Department of Pathology and Laboratory Medicine Cedars\u2010Sinai Medical Center  Los Angeles CA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.K.","family":"Runke","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine and Pathology Mayo Clinic  Rochester MN USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E.C.","family":"Thorland","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine and Pathology Mayo Clinic  Rochester MN USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.A.","family":"Al\u2010Owain","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics King Faisal Specialist Hospital and Research Centre  Riyadh Saudi Arabia"},{"name":"Department of Anatomy and Cell Biology, College of Medicine Alfaisal University  Riyadh Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.W.","family":"Ellison","sequence":"additional","affiliation":[{"name":"Department of Genetics Kaiser Permanente Medical Center  San Francisco CA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D.","family":"Babovic\u2010Vuksanovic","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine and Pathology Mayo Clinic  Rochester MN USA"},{"name":"Department of Medical Genetics Mayo Clinic  Rochester MN 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