Homozygous c.359del variant in MGME1 is associated with early onset cerebellar ataxia

Eur J Med Genet. 2017 Oct;60(10):533-535. doi: 10.1016/j.ejmg.2017.07.010. Epub 2017 Jul 12.

Abstract

We ascertained a child with early onset cerebellar ataxia and identified a novel frameshift deletion, c.359del [p. (Pro120Leufs*2), NM_052865.2] in exon 2 of MGME1 (mitochondrial genome maintenance exonuclease 1) by exome sequencing. Variations in MGME1 have been reported to cause mitochondrial DNA (mtDNA) depletion syndrome 11 (MIM #615084) in an earlier work. The phenotype included progressive external ophthalmoplegia, emaciation, respiratory failure and late onset progressive ataxia. However, the child presented here has early onset progressive ataxia, speech delay, microcephaly, cerebellar atrophy and fundus albipunctatus. This is the second report of a mutation in MGME1 and describes a more severe phenotype.

Keywords: Ataxia; Exome sequencing; MGME1; Mitochondrial DNA depletion syndrome.

Publication types

  • Case Reports

MeSH terms

  • Cerebellar Ataxia / diagnosis
  • Cerebellar Ataxia / genetics*
  • Child, Preschool
  • Developmental Disabilities / diagnosis
  • Developmental Disabilities / genetics*
  • Exodeoxyribonucleases / genetics*
  • Female
  • Frameshift Mutation
  • Gene Deletion*
  • Homozygote
  • Humans
  • Microcephaly / diagnosis
  • Microcephaly / genetics*
  • Ophthalmoplegia / diagnosis
  • Ophthalmoplegia / genetics*
  • Phenotype
  • Syndrome

Substances

  • Exodeoxyribonucleases
  • MGME1 protein, human