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Eur J Med Genet. 2012 Feb;55(2):132-4. doi: 10.1016/j.ejmg.2011.10.004. Epub 2011 Nov 25.

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

Author information

1
A C Camargo Cancer Hospital, São Paulo, Brazil.

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.

PMID:
22178256
DOI:
10.1016/j.ejmg.2011.10.004
[Indexed for MEDLINE]

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