{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,10,7]],"date-time":"2023-10-07T16:40:07Z","timestamp":1696696807775},"reference-count":36,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2015,4,21]],"date-time":"2015-04-21T00:00:00Z","timestamp":1429574400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Fundaci\u00f3n 1.000 sobre Defectos Cong\u00e9nitos, Spain."}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2015,6]]},"abstract":"<jats:sec><jats:label \/><jats:p>Warburg\u2013Micro syndrome (WARBM) is an autosomal recessive syndrome characterized by microcephaly, microphthalmia, microcornea, congenital cataracts, optic atrophy and central nervous system malformations. This syndrome is caused by mutations in the <jats:italic>RAB3GAP1\/2<\/jats:italic> and <jats:italic>RAB18<\/jats:italic> genes, part of the Rab family, and in the <jats:italic>TBC1D20<\/jats:italic> gene, which contributes to lipid droplet formation\/metabolism. Here we present a patient with clinical diagnosis of WARBM syndrome, who did not have mutations in either the <jats:italic>RAB3GAP1\/2<\/jats:italic> genes, in the main exons of <jats:italic>RAB18<\/jats:italic>, nor in the <jats:italic>TBC1D20<\/jats:italic> gene. However, the analysis with CGH\u2010array detected a 9.6 Mb deletion at 1q43\u2010qter. We performed a genotype\u2013phenotype correlation using 20 previously published patients in whom the coordinates of the deleted regions were defined. The comparative analysis revealed that the current patient and three of the other 20 patients share the loss of six genes, four of which are related with the family of G proteins, and are strongly expressed in the brain, retina, heart and kidney. Consequently, their haploinsufficiency may result in different combinations of clinical alterations, including some of those of WARBM syndrome. In addition, the haploinsufficiency of other genes may contribute to other defects and clinical variability. Additionally, for the genotype\u2013phenotype correlation, one must also consider molecular pathways that can result in the observed alterations. To early confirm a genetic diagnosis is essential for the patient and family. The current patient was considered as having a recessive syndrome, but since he had a \u201cde novo\u201d deletion, there was not an increased recurrence risk. \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36878","type":"journal-article","created":{"date-parts":[[2015,4,22]],"date-time":"2015-04-22T04:03:26Z","timestamp":1429675406000},"page":"1243-1251","source":"Crossref","is-referenced-by-count":4,"title":["Deletion 1q43\u201044 in a patient with clinical diagnosis of Warburg\u2013Micro syndrome"],"prefix":"10.1002","volume":"167","author":[{"given":"Ignacio","family":"Arroyo\u2010Carrera","sequence":"first","affiliation":[{"name":"Servicio de Pediatr\u00eda Hospital San Pedro de Alc\u00e1ntara C\u00e1ceres Spain"},{"name":"Spanish Collaborative Study of Congenital Malformations (ECEMC) Spain"},{"name":"CIBER de Enfermedades Raras (CIBERER) (U724) Instituto de Salud Carlos III Ministerio de Econom\u00eda y Competitividad Madrid 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Competitividad Madrid Spain"},{"name":"Centro de Investigaci\u00f3n sobre Anomal\u00edas Cong\u00e9nitas (CIAC) Instituto de Salud Carlos III Madrid Spain"},{"name":"Departamento de Farmacolog\u00eda Facultad de Medicina Universidad Complutense de Madrid Madrid Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2015,4,21]]},"reference":[{"key":"e_1_2_6_2_1","first-page":"423","article-title":"Phenotypic variability in Micro syndrome: Report of new cases","volume":"18","author":"Abdel\u2010Salam GMH","year":"2007","journal-title":"Genet 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