A novel homozygous variant in MICOS13/QIL1 causes hepato-encephalopathy with mitochondrial DNA depletion syndrome.

Yoshihito Kishita Masaru Shimura Masakazu KohdaMasumi AkitaAtsuko Imai-Okazaki Yukiko YatsukaYoko NakajimaTetsuya ItoAkira Ohtake Kei Murayama Yasushi Okazaki

Published in: Molecular genetics & genomic medicine (2020)

Our findings suggest that the novel c.13_29del (p.Trp6Profs*71) MICOS13 variant causes hepato-encephalopathy with MTDPS. We propose that MICOS13 is classified as the cause of MTDPS.

Keyphrases

mitochondrial dna
copy number
early onset
dna methylation
genome wide