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A locus for juvenile myoclonic epilepsy maps to 2q33–q36

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Abstract

We performed a whole genome linkage analysis in a three-generation south Indian family with multiple members affected with juvenile myoclonic epilepsy (JME). The maximum two-point LOD score obtained was 3.32 at recombination fraction (θ) = 0 for D2S2248. The highest multipoint score of 3.59 was observed for the genomic interval between D2S2322 and D2S2228 at the chromosomal region 2q33–q36. Proximal and distal boundaries of the critical genetic interval were defined by D2S116 and D2S2390, respectively. A 24-Mb haplotype was found to co-segregate with JME in the family. While any potentially causative variant in the functional candidate genes, SLC4A3, SLC23A3, SLC11A1 and KCNE4, was not detected, we propose to examine brain-expressed NRP2, MAP2, PAX3, GPR1, TNS1 and DNPEP, and other such positional candidate genes to identify the disease-causing gene for the disorder.

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Acknowledgments

We are grateful to the family for participation in the study. This work was supported by funds from DAE, Mumbai, DBT, New Delhi; and JNCASR, Bangalore. RR acknowledges a research fellowship from CSIR, New Delhi.

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Authors and Affiliations

  1. Molecular Biology and Genetics Unit, Jawaharlal Nehru Centre for Advanced Scientific Research, Bangalore, 560 064, India

    Rinki Ratnapriya & Anuranjan Anand

  2. Department of Neurology, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Trivandrum, Kerala, 695 011, India

    Joseph Vijai, Rajesh S. Iyer & Kurupath Radhakrishnan

  3. Centre for Human Genetics, Biotechnology Park, Electronic City Phase 1, Bangalore, 560 100, India

    Jayaram S. Kadandale

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  1. Rinki Ratnapriya
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  2. Joseph Vijai
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Correspondence to Anuranjan Anand.

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Ratnapriya, R., Vijai, J., Kadandale, J.S. et al. A locus for juvenile myoclonic epilepsy maps to 2q33–q36. Hum Genet 128, 123–130 (2010). https://doi.org/10.1007/s00439-010-0831-6

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  • DOI: https://doi.org/10.1007/s00439-010-0831-6

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