Chronic progressive external ophthalmoplegia plus syndrome due to homozygous missense variant in TOP3A gene.

Arnau LlauradoEulalia Rovira-MorenoMarta Codina-SolàElena Martínez-SaezMaria SalvadóDaniel Sanchez-TejerinaJavier SotocaVerónica López-DiegoJuan Luis Restrepo-VeraElena Garcia-ArumiRaul Juntas-Morales

Published in: Clinical genetics (2022)

Chronic progressive external ophthalmoplegia (CPEO) plus syndrome due to pathogenic biallelic variants in TOP3A gene has been described in only one single patient. We report two adult siblings with c.614A>G (p.Asp205Gly) homozygous missense variant in the TOP3A gene who had CPEO plus syndrome.

Keyphrases

copy number
intellectual disability
case report
genome wide
multiple sclerosis
genome wide identification
dna methylation
transcription factor
drug induced
genome wide analysis