Homozygous c.359del variant in MGME1 is associated with early onset cerebellar ataxia |
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| Affiliation: | 1. Central Laboratory, Hangzhou First People''s Hospital, Hangzhou 310006, China;2. Affiliated Hangzhou Hospital, Nanjing Medical University, Hangzhou 310006, China;3. Department of Pharmacy, Hunan University of Traditional Chinese Medicine, Changsha 410208, China;4. Department of Laboratory Medicine, Shaoxing People''s Hospital, Shaoxing Hospital of Zhejiang University, Shaoxing 312000, China;5. Analytical Testing Center, Zhejiang University of Traditional Chinese Medicine, Hangzhou 310053, China;6. Department of Otolaryngology, Hangzhou First People''s Hospital, Hangzhou 310006, China |
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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. |
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| Keywords: | Mitochondrial DNA depletion syndrome Exome sequencing Ataxia |
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