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

Autor(es)

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]

Afiliação do(s) autor(es)

^[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

• Tipo de documento: Artigo Científico
• Fonte: EUROPEAN JOURNAL OF MEDICAL GENETICS; v. 55, n. 2, p. 132-134, FEB 2012.
• Citações Web of Science: 22

Resumo

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)

• Processo FAPESP: 98/14254-2 - Centro de Estudos do Genoma Humano
• Beneficiário: Mayana Zatz
• Linha de fomento: Auxílio à Pesquisa - Centros de Pesquisa, Inovação e Difusão - CEPIDs
• Processo FAPESP: 09/00898-1 - Desequilíbrios genômicos submicroscópicos em quadros clínicos específicos de anomalias congênitas e deficiência mental
• Beneficiário: Carla Rosenberg
• Linha de fomento: Auxílio à Pesquisa - Temático