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. 1999 Dec;65(6):1698-710.
doi: 10.1086/302649.

Mapping of a gene determining familial partial epilepsy with variable foci to chromosome 22q11-q12

L Xiong  1 , M Labuda, D S Li, T J Hudson, R Desbiens, G Patry, S Verret, P Langevin, S Mercho, M H Seni, I Scheffer, F Dubeau, S F Berkovic, F Andermann, E Andermann, M Pandolfo
Affiliations

Mapping of a gene determining familial partial epilepsy with variable foci to chromosome 22q11-q12

L Xiong et al. Am J Hum Genet. 1999 Dec.

Abstract

We identified two large French-Canadian families segregating a familial partial epilepsy syndrome with variable foci (FPEVF) characterized by mostly nocturnal seizures arising from frontal, temporal, and occasionally occipital epileptic foci. There is no evidence for structural brain damage or permanent neurological dysfunction. The syndrome is inherited as an autosomal dominant trait with incomplete penetrance. We mapped the disease locus to a 3. 8-cM interval on chromosome 22q11-q12, between markers D22S1144 and D22S685. Using the most conservative diagnostic scheme, the maximum cumulative LOD score was 6.53 at recombination fraction (straight theta) 0 with D22S689. The LOD score in the larger family was 5.34 at straight theta=0 with the same marker. The two families share an identical linked haplotype for >/=10 cM, including the candidate interval, indicating a recent founder effect. A severe phenotype in one of the probands may be caused by homozygosity for the causative mutation, as suggested by extensive homozygosity for the linked haplotype and a bilineal family history of epilepsy. An Australian family with a similar phenotype was not found to link to chromosome 22, indicating genetic heterogeneity of FPEVF.

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Figures

Figure 1
Figure 1
Pedigrees of two French-Canadian families segregating FPEVF. Only individuals indicated with blackened symbols were considered as affected in the analysis to establish linkage and then were used to identify the critical interval. Chromosome 22q11-q12 marker data are indicated below each typed individual. The disease-associated haplotype is boxed. In 22 individuals (panel A), two deduced paternal recombinations that define the centromeric boundary of the candidate region can be detected: one recombination occurred between D22S1144 and D22S1163 in II:1, the other between D22S1154 and D22S1144 in II:15. A paternal recombination between D22S685 and D22S280 occurred in III:16 and defines the telomeric boundary of the candidate interval. Note the homozygosity of the proband of family 22 (IV:30) for all but two distal markers. For distances between the markers, refer to figure 2. Inferred haplotypes are in parentheses.
Figure 1
Figure 1
Pedigrees of two French-Canadian families segregating FPEVF. Only individuals indicated with blackened symbols were considered as affected in the analysis to establish linkage and then were used to identify the critical interval. Chromosome 22q11-q12 marker data are indicated below each typed individual. The disease-associated haplotype is boxed. In 22 individuals (panel A), two deduced paternal recombinations that define the centromeric boundary of the candidate region can be detected: one recombination occurred between D22S1144 and D22S1163 in II:1, the other between D22S1154 and D22S1144 in II:15. A paternal recombination between D22S685 and D22S280 occurred in III:16 and defines the telomeric boundary of the candidate interval. Note the homozygosity of the proband of family 22 (IV:30) for all but two distal markers. For distances between the markers, refer to figure 2. Inferred haplotypes are in parentheses.
Figure 2
Figure 2
Disease haplotypes in families 22 and 14. The order of markers is based on the physical map of contig 22 in the Sanger Centre map, genetic distances (sex-averaged) are according to the Généthon map (Dib et al. 1996). F22 designates the disease haplotype in family 22, F22* the maternal haplotype of the proband of family 22. F14 designates the disease haplotype in family 14. Shared haplotype portions are gray. Markers within the candidate interval defined by recombination analysis are in bold. The 3.8-cM candidate region is marked by an arrow.
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References

Electronic-Database Information

    1. Online Mendelian Inheritance in Man (OMIM), http://www.ncbi.nlm.nih.gov/Omim
    1. GeneMap 99, http://www.ncbi.nlm.nih.gov/genemap99/
    1. Généthon map, ftp://ftp.genethon.fr/pub/Gmap/Nature-1995
    1. Genetic Location Database, ftp://cedar.genetics.soton.ac.uk/public_html/index.html
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