Long-read sequencing identified intronic repeat expansions in <i>SAMD12</i> from Chinese pedigrees affected with familial cortical myoclonic tremor with epilepsy

Abstract

We identified the pentanucleotide repeat expansion in <i>SAMD12</i> as the causative mutation in Chinese FCMTE pedigrees. Our study also suggested that LRS is an effective tool for molecular diagnosis of genetic disorders, especially for neurological diseases that cannot be positively diagnosed by conventional clinical microarray and NGS technologies.