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. 2009 Jun 5;150B(4):570-4.
doi: 10.1002/ajmg.b.30879.

Familial dyskinesia and facial myokymia (FDFM): Follow-up of a large family and linkage to chromosome 3p21-3q21

Wendy H Raskind  1 , Mark Matsushita, Beate Peter, Jeffrey Biberston, John Wolff, Hillary Lipe, Ruben Burbank, Thomas D Bird
Affiliations

Familial dyskinesia and facial myokymia (FDFM): Follow-up of a large family and linkage to chromosome 3p21-3q21

Wendy H Raskind et al. Am J Med Genet B Neuropsychiatr Genet. .

Abstract

We previously reported a five-generation family manifesting an autosomal dominant disorder of facial myokymia and dystonic/choreic movements (FDFM). The dyskinetic episodes are initially paroxysmal but may become constant. With increasing age they may lessen or even disappear. The previous study excluded nine candidate genes chosen for their association with myokymia or chorea and two regions containing single or clustered ion channel genes. We now report identification by whole genome linkage analysis of a broad region on chromosome 3p21-3q21 that segregates with the disease in all 10 affected members in three generations who participated in the study. GENEHUNTER-MODSCORE Version 2.0.1 provided a maximum multipoint LOD score of 3.099. No other disorders primarily characterized by myokymia, dystonia, or chorea are known to map to this region. Identification of additional families with FDFM may narrow the critical region and facilitate the choice of candidate genes for further analysis.

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Figures

Figure 1
Figure 1
Five-generation pedigree demonstrating apparent autosomal dominant transmission of familial dyskinesia and facial myokymia. Affected individuals are denoted by gray symbols. Haplotypes for nine markers on chromosome 3 are shown for all participating subjects; chromosome segments containing the putative disease-causing allele are shown in black; an ambiguous segment is shown in gray. Arrows identify recombinations in two affected persons that define the minimal linkage region.
Figure 2
Figure 2
Multipoint LOD plot of results for 25 markers on chromosome 3 that demonstrates a broad region with positive scores.
See this image and copyright information in PMC

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