KCNJ2
KCNJ2 mutations - KCNJ2 synopsis
OMIM: #170390
KCNJ2: cDNA; Locus link; Unigene - Protein: AAF73241 -
| Chromosome | Band | Marker | Amplimer | PCR Product* | Het | LOD score# | Reference |
|---|---|---|---|---|---|---|---|
| 17 | q23 | D17S949 | AFM292vh9 | 109bp | 0.83 | 3.23 | Dib C et al.; Plaster et al. |
| 17 | q23 | D17S787 | AFM095tc5 | 138-166 | 0.816 | (1) | Dib C et al.; Plaster et al. |
| 17 | q23 | D17S784 | AFM044xg3 | 215 | 0.78 | (2) | Dib C et al.; Plaster et al. |
* fragment size in base pairs; # Lod score for linkage to disease locus;
Linkage: (1) Proximal recombinant boundary;
(2) Distal recombinant boundary.
Plaster
et al. performed a genome-wide linkage analysis using 400 polymorphic markers
in a 15 individuals family and identified a statistically significant linkage
in a 40 cM region on the long arm of chromosome 17. Subsequently they identified
KCNJ2 as a possible candidate and identified a missense mutation (D71V)
co-segregating with the clinical phenotype and causing a loss of function of
the Kir2.1 channel responsible for the IK1 current in myocardial cells (but
also axpressing in other organs), In the heart IK1 controls the resting membrane
potential.
Other candidates in the region were excluded: CACNG1 (a calcium channel) and SCN4A (a sodium channel).
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