Vol. 3, Issue 5 (2017)
Novel missense mutations in BRD2 gene of JME patients: A study from South India
Author(s): Maniyar Roshan Z, Dosi MA, Parveen Jahan, BN Umarji, Shivannarayan, Parthasaradhi G, Syed Muneer
Abstract: Background: The genetic background for Juvenile myoclonic epilepsies (JME) accounts for 5-10% of all form of epilepsy. A non-ion channel gene of the BRD2 protein cause programmed cell death in the developing brain. JME inheritance is autosomal dominant in all BRD2 mutations show heterozygosity in affected individuals. The JME is estimated around 3 in 10, 000 with peak age at 14.5 to 15.5 years that affect both genders. Juvenile myoclonic epilepsies are primarily genetic in origin and genetically determined adolescent syndrome among the idiopathic generalized epilepsies (IGE) and almost certainly involve multiple genes. In the current study direct sequencing of the BRD2 gene exhibited a heterozygous missense mutations (C>A, A>T, G>A) in exon 11-12 that may alter the amino acid there by the function of the protein molecule. Objectives: 1. To support innovative research, of the highest scientific merit, that has the potential for patient benefit; 2. To identify the mutations in BRD2 gene of JME patients Methods: The case-control study design was used to test the potential involvement of BRD2 gene variations in the etiology of JME. We performed molecular a molecular screening of BRD2 gene exonic sequences for the detection of mutations by genomic PCR amplification and direct sequencing through ABI PRISM® 377 DNA Analyzer. Result: Missesnse mutations were observed in exons 11and12 of BRD2 gene in unrelated JME cases from south Indian population. Conclusion: We found 3 novel missense mutations of Bdr2 gene in 2.2% of unrelated JME patients from south India. The present study is the first report in relation to JME and Brd2 gene from this part of the world. Large scale family studies are required to establish the present observation in different ethnic populations.