Title |
Homozygous c.359del variant in MGME1 is associated with early onset cerebellar ataxia
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Published in |
European Journal of Medical Genetics, July 2017
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DOI | 10.1016/j.ejmg.2017.07.010 |
Pubmed ID | |
Authors |
Malavika Hebbar, Katta M. Girisha, Anshika Srivastava, Stephanie Bielas, Anju Shukla |
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. |
X Demographics
Geographical breakdown
Country | Count | As % |
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Switzerland | 2 | 100% |
Demographic breakdown
Type | Count | As % |
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Members of the public | 2 | 100% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
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Unknown | 15 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
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Student > Master | 2 | 13% |
Researcher | 2 | 13% |
Student > Ph. D. Student | 2 | 13% |
Other | 1 | 7% |
Student > Bachelor | 1 | 7% |
Other | 2 | 13% |
Unknown | 5 | 33% |
Readers by discipline | Count | As % |
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Biochemistry, Genetics and Molecular Biology | 5 | 33% |
Medicine and Dentistry | 3 | 20% |
Neuroscience | 1 | 7% |
Unknown | 6 | 40% |