Xinhui Chen

Nov 21, 2024 | movementdisorders.onlinelibrary.wiley.com | Xinhui Chen |Bo Wang |Haibin Xia |Haotian Wang

The pentanucleotide (TTTCA) repeat expansion (exp) insertion, along with the accompanying (TTTTA)exp, causes familial cortical myoclonic tremor with epilepsy (FCMTE). The genotype–phenotype correlations and intergenerational instabilities related to (TTTCA)exp and (TTTTA)exp are still unclear. The aim was to investigate the genotype–phenotype correlations and intergenerational instabilities related to (TTTCA)exp and (TTTTA)exp in FCMTE1.

Jan 10, 2024 | nature.com | Xinhui Chen

AbstractFamilial cortical myoclonic tremor with epilepsy type 1 (FCMTE1) is caused by (TTTTA)exp(TTTCA)exp repeat expansions in SAMD12, while pure (TTTTA)exp is polymorphic. Our investigation focused on the origin and evolution of pure (TTTTA)exp and (TTTTA)exp(TTTCA)exp at this locus. We observed a founder effect between them. The phylogenetic analysis suggested that the (TTTTA)exp(TTTCA)exp might be generated from pure (TTTTA)exp through infrequent transformation events.