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A genetic locus for sensory epilepsy precipitated by contact with hot water maps to chromosome 9p24.3-p23

Karan, KalpitaR., Satishchandra, Parthasarthy, Sinha, Sanjib, Anand, Anuranjan
Journal of genetics 2018 v.97 no.2 pp. 391-398
DNA, chromosome mapping, epilepsy, genes, genetic heterogeneity, loci, penetrance, seizures, India
Hot water epilepsy (HWE) is a rare form of sensory epilepsy where seizures are precipitated by a stimulus of contact with hot water. While earlier studies have suggested causal role of genes for HWE, specific underpinnings are beginning to be explored only recently. We carried out a whole genome-based linkage analysis in a family where most of its members affected by HWE and found evidence of a previously unknown locus at chromosome 9p24.3-p23. Parametric two-point analysis suggested linkage with the greatest LOD score of 3.42 for the marker D9S286 at 9p24.1 at recombination fraction ([Formula: see text]) = 0, 90% penetrance value and 1% phenocopy rate. The highest multipoint LOD score of 3.42 was obtained for same marker at 9p24. The critical genetic interval of about 10 Mb of DNA was defined by the markers D9S917 and D9S168 corresponding to the centromere-distal and centromere-proximal recombination boundaries, respectively. This observation along with our previous findings of hot water genetic loci at 10q21.3-q22.3 (OMIM: 613339) and 4q24-q28 (OMIM: 613340), indicates unanticipated genetic heterogeneity for the disorder in families from a relatively small geographic region in the southern parts of India.