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

Malavika Hebbar, Katta M. Girisha, Anshika Srivastava, Stephanie Bielas, Anju Shukla

Research output: Contribution to journalArticle

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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.

Original languageEnglish
Pages (from-to)533-535
Number of pages3
JournalEuropean Journal of Medical Genetics
Volume60
Issue number10
DOIs
Publication statusPublished - 01-10-2017

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Spinocerebellar Degenerations
Mitochondrial Genome
Maintenance
Ataxia
Chronic Progressive External Ophthalmoplegia
Emaciation
Exome
Language Development Disorders
Phenotype
Microcephaly
Mitochondrial DNA
Respiratory Insufficiency
Atrophy
Exons
Mutation
exodeoxyribonuclease I

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

Cite this

Hebbar, Malavika ; Girisha, Katta M. ; Srivastava, Anshika ; Bielas, Stephanie ; Shukla, Anju. / Homozygous c.359del variant in MGME1 is associated with early onset cerebellar ataxia. In: European Journal of Medical Genetics. 2017 ; Vol. 60, No. 10. pp. 533-535.
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Homozygous c.359del variant in MGME1 is associated with early onset cerebellar ataxia. / Hebbar, Malavika; Girisha, Katta M.; Srivastava, Anshika; Bielas, Stephanie; Shukla, Anju.

In: European Journal of Medical Genetics, Vol. 60, No. 10, 01.10.2017, p. 533-535.

Research output: Contribution to journalArticle

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AU - Girisha, Katta M.

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AU - Shukla, Anju

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