Genetic analysis of a Chinese family provides further evidence for linkage of familial cortical myoclonic tremor with epilepsy to 5p15.31-p15.

AIM: In this study, we genotyped eight microsatellite markers on chromosome 5 and performed linkage analyses. We aimed to establish the pathogenic gene loci in this familial cortical myoclonic tremor with epilepsy (FCMTE) pedigree.

MATERIALS AND METHODS: Reliable clinical information was obtained on the Chinese family members. Our study performed linkage analysis across these loci to identify and further characterize the pathogenic gene locus underlying FCMTE in Chinese patients.

RESULTS: Positive signals (>1) were only obtained for 5p15.31-p15 (Logarithm of Odds (LOD) values 2.16 and 1.34 for D5S1957 and D5S2095, respectively; θ =0.0), supporting involvement of this region in the FCTME pedigree analyzed.

CONCLUSION: Genetic analysis of a Chinese family provides further evidence for linkage of FCMTE to 5p15.31-p15.