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

Hebbar, Malavika and Girisha, KM and Shukla, Anju (2017) Homozygous c.359del variant in MGME1 is associated with early onset cerebellar ataxia. European Journal of Medical Genetics, 60 (10). pp. 533-535. ISSN 1769-7212

[img] PDF
RMS - 00003107.pdf - Published Version
Restricted to Registered users only

Download (461kB) | Request a copy

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.

Item Type: Article
Uncontrolled Keywords: Ataxia; exome sequencing; MGME1; mitochondrial DNA depletion syndrome.
Subjects: Medicine > KMC Manipal > Paediatrics
Depositing User: KMC Library
Date Deposited: 05 Sep 2017 04:23
Last Modified: 05 Sep 2017 04:23
URI: http://eprints.manipal.edu/id/eprint/149633

Actions (login required)

View Item View Item