Is 1p36 deletion associated with anterior body wall defects?

• Published in: American journal of medical genetics. Part A Vol. 170A; no. 7; pp. 1889 - 1894
• Main Authors: Çöllü, Medis, Yüksel, Şirin, Şirin, Başak Kumbasar, Abbasoğlu, Latif, Alanay, Yasemin
• Format: Journal Article
• Language: English
• Published: United States Blackwell Publishing Ltd 01.07.2016; Wiley Subscription Services, Inc
• Subjects: Abnormalities, Multiple - genetics; Abnormalities, Multiple - physiopathology; Anus, Imperforate - genetics; Anus, Imperforate - physiopathology; bladder exstrophy; Bladder Exstrophy - physiopathology; Child, Preschool; chromosome 1p36 deletion; Chromosome Deletion; Chromosome Disorders - genetics; Chromosome Disorders - physiopathology; Chromosomes, Human, Pair 1 - genetics; Epispadias - genetics; Epispadias - physiopathology; Female; Genetic Association Studies; Hernia, Umbilical - genetics; Hernia, Umbilical - physiopathology; Humans; Male; OEIS complex; pentalogy of Cantrell; Pregnancy; Prenatal Diagnosis; Scoliosis - genetics; Scoliosis - physiopathology; Urogenital Abnormalities - genetics; Urogenital Abnormalities - physiopathology; bladder exstrophy; pentalogy of Cantrell; OEIS complex; chromosome 1p36 deletion
• ISSN: 1552-4825; 1552-4833
• DOI: 10.1002/ajmg.a.37666

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.