A locus for juvenile myoclonic epilepsy maps to 2q33-q36.
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 (theta) = 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.
Ratnapriya
Rinki
R
Molecular Biology and Genetics Unit, Jawaharlal Nehru Centre for Advanced Scientific Research, Bangalore, 560 064, India.
Vijai
Joseph
J
Kadandale
Jayaram S
JS
Iyer
Rajesh S
RS
Radhakrishnan
Kurupath
K
Anand
Anuranjan
A
D001921:Brain / Q000503:physiopathology; D027682:Cation Transport Proteins; D005796:Genes; D008040:Genetic Linkage; D006239:Haplotypes; D006801:Humans; D008126:Lod Score; D020190:Myoclonic Epilepsy, Juvenile / Q000235:genetics* / Q000503:physiopathology; D000099173:Natural Resistance-associated Macrophage Protein 1
D027682:Cation Transport Proteins; D000099173:Natural Resistance-associated Macrophage Protein 1
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