A recurrent homozygous NHLRC1 variant in siblings with Lafora disease.

Nami ArayaYukitoshi TakahashiMasayuki ShimonoTomofumi FukudaMitsuhiro KatoMitsuko NakashimaNaomichi MatsumotoHirotomo Saitsu

Published in: Human genome variation (2018)

We report a case of two siblings with progressive myoclonus epilepsy whose parents were not consanguineous. Their clinical symptoms were typical of Lafora disease (LD), but skin biopsies revealed no Lafora bodies. Whole-exome sequencing identified a recurrent homozygous frameshift variant in the NHLRC1 gene in both siblings. The genetic analysis was useful for the diagnosis of LD, as neither consanguinity nor Lafora bodies were found.

Keyphrases

intellectual disability
gene expression
single cell
copy number
dna methylation
ultrasound guided
sleep quality
genome wide analysis