title: Is 1p36 deletion associated with anterior body wall defects?
abstract: Epispadias and exstrophy of the cloaca, also known as OEIS complex (omphalocele, exstrophy, imperforate anus, spinal defects), respectively constitute the most benign and severe ends of the bladder exstrophy-epispadias complex (BEEC) spectrum. In 2009, El-Hattab et al. reported the first patient with OEIS complex associated with a chromosome 1p36 deletion. Here we report a second patient with 1p36 deletion who also has classic bladder exstrophy, supporting the possible role of genes in this region in the development of BEEC. The absence of omphalocele and imperforate anus in our patient places him toward classic bladder exstrophy while presence of spina bifida and the absence of coccyx suggest an overlap with OEIS complex. An additional differential diagnosis is the pentalogy of Cantrell in our patient as he also has a diaphragmatic hernia and an incomplete sternum. This is the second observation of a ventral midline birth defect in association with 1p36 deletion syndrome, following El-Hattab et al.'s report [2009]. The three genes (NOCL2, DVL1, and MMP23B) discussed as possible candidates are also among the deleted ones in our patient, supporting the possible role of these genes in BEEC spectrum. © 2016 Wiley Periodicals, Inc.
authors.affiliation: Intern, Department of Pediatrics, Acibadem University School of Medicine, Istanbul, Turkey.
authors.forename: Medis
authors.initials: M
authors.lastname: Çöllü
authors.affiliation: Department of Molecular Biology and Genetics, Acibadem University Faculty of Arts and Sciences, Istanbul, Turkey.
authors.forename: Şirin
authors.initials: Ş
authors.lastname: Yüksel
authors.affiliation: Department of Radiology, Acibadem Maslak Hospital, Istanbul, Turkey.
authors.forename: Başak Kumbasar
authors.initials: BK
authors.lastname: Şirin
authors.affiliation: Department of Pediatric Surgery, Acibadem University School of Medicine, Istanbul, Turkey.
authors.forename: Latif
authors.initials: L
authors.lastname: Abbasoğlu
authors.affiliation: Pediatric Genetics Unit, Department of Pediatrics, Acibadem University School of Medicine, Istanbul, Turkey.
authors.forename: Yasemin
authors.initials: Y
authors.lastname: Alanay
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000503:physiopathology; D001006:Anus, Imperforate / Q000235:genetics* / Q000503:physiopathology; D001746:Bladder Exstrophy / Q000503:physiopathology; D002675:Child, Preschool; D002872:Chromosome Deletion; D025063:Chromosome Disorders / Q000235:genetics* / Q000503:physiopathology; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics; D004842:Epispadias / Q000235:genetics* / Q000503:physiopathology; D005260:Female; D056726:Genetic Association Studies; D006554:Hernia, Umbilical / Q000235:genetics* / Q000503:physiopathology; D006801:Humans; D008297:Male; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012600:Scoliosis / Q000235:genetics* / Q000503:physiopathology; D014564:Urogenital Abnormalities / Q000235:genetics* / Q000503:physiopathology; D000099061:OEIS Complex
keywords: OEIS complex; bladder exstrophy; chromosome 1p36 deletion; pentalogy of Cantrell