Deletion of the RMGA and CHD2 genes in a child with epilepsy and mental deficiency

Author(s)

Capelli, Leonardo P. ^[1] ; Krepischi, C. V. ^[1] ; Gurgel-Giannetti, Juliana ^[2] ; Mendes, Mirian Fabiola S. ^[3] ; Rodrigues, Tatiane ^[4] ; Varela, Monica C. ^[4] ; Koiffmann, Celia P. ^[4] ; Rosenberg, Carla ^[4]

Affiliation

^[1] AC Camargo Canc Hosp, Sao Paulo - Brazil

^[2] Univ Fed Minas Gerais, Dept Pediat, Belo Horizonte, MG - Brazil

^[3] Madre Teresa Hosp, Belo Horizonte, MG - Brazil

^[4] Univ Sao Paulo, Dept Genet & Biol Evolut, Inst Biociencias, BR-05508090 Sao Paulo - Brazil

• Document type: Journal article
• Source: EUROPEAN JOURNAL OF MEDICAL GENETICS; v. 55, n. 2, p. 132-134, FEB 2012.
• Web of Science Citations: 23

Abstract

We describe a novel chromosome microdeletion at 15q26.1 detected by oligo-array-CGH in a 6-year-old girl presenting with global development delay, epilepsy, autistic behavior and facial dysmorphisms. Although these features are often present in Angelman syndrome, no alterations were present in the methylation pattern of the Prader-Willi-Angelman critical region. The deletion encompasses only 2 genes: CHD2, which is part of a gene family already involved in CHARGE syndrome, and RGMA which exerts a negative control on axon growth. Deletion of either or both genes could cause the phenotype of this patient. These results provide a further chromosome region requiring evaluation in patients presenting Angelman features. (C) 2011 Elsevier Masson SAS. All rights reserved. (AU)

• FAPESP's process: 09/00898-1 - Submicroscopic genomic imbalances associated with specific congenital abnormalities and mental deficiency phenotypes
• Grantee: Carla Rosenberg
• Support Opportunities: Research Projects - Thematic Grants
• FAPESP's process: 98/14254-2 - The Human Genome Research Center
• Grantee: Mayana Zatz
• Support Opportunities: Research Grants - Research, Innovation and Dissemination Centers - RIDC