Identification of a new candidate locus for ebstein anomaly in 1p36.2

Ebstein anomaly (EA) is a rare congenital heart defect (CHD) with a poorly characterized genetic etiology. However, some EA patients carry deletions in 1p36, all of which have been reported to carry distal deletions and share loss of the PRDM16 gene, which is currently considered the most likely candidate for EA development in this region. Here, we report a patient with an 11.96-Mb proximal 1p36 deletion, without loss of PRDM16, who presented with EA and a proximal deletion phenotype. This finding suggests that PRDM16 loss is not required for the development of EA in 1p36 deletions and that the loss of an additional proximal locus in 1p36 is also likely associated with EA. Our data suggest that a distal locus containing the SKI gene and a proximal locus containing the CHD-associated genes RERE and UBE4B are the most probable etiological factors for EA in patients with 1p36 deletion syndrome. © 2018 S. Karger AG, Basel. All rights reserved.

• Fecha de publicación: 2018
• Institución: Universidad del Rosario
• Repositorio: Repositorio EdocUR - U. Rosario
• Idioma: eng
• OAI Identifier: oai:repository.urosario.edu.co:10336/22625
• Acceso en línea: https://doi.org/10.1159/000488820; https://repository.urosario.edu.co/handle/10336/22625
• Palabra clave: Zinc finger E box binding homeobox 2; Article; Bacterial pneumonia; Bicuspid aortic valve; Birth weight; Case report; Child; Chromosome deletion 22q11; Clinical article; Cranial suture; Cryptorchism; Cyanosis; Dysphagia; Ebstein anomaly; Echocardiography; Echography; Enteric feeding; Eye disease; Failure to thrive; Funnel chest; Gastroenteritis; Gastroesophageal reflux; Gene; Gene deletion; Gene identification; Gene locus; Gene loss; Haploinsufficiency; Head circumference; Hearing impairment; Heart ventricle septum defect; Height; Hospital patient; Human; Hydramnios; Hypothyroidism; Intellectual impairment; Intelligence quotient; Keratoconus; Leukorrhea; Male; Microarray analysis; Muscle hypotonia; Nuclear magnetic resonance imaging; Phenotype; Photophobia; Physical examination; PRDM16 gene; Preschool child; Priority journal; Pulmonary valve stenosis; Seizure; SKI gene; Subarachnoid space; Supraventricular tachycardia; Tricuspid valve regurgitation; Wilson disease
• License: Abierto (Texto Completo)