GNE myopathy caused by a synonymous mutation leading to aberrant mRNA splicing.
Neuromuscul Disord
; 28(2): 154-157, 2018 02.
Article
in En
| MEDLINE
| ID: mdl-29307446
ABSTRACT
GNE myopathy is a rare autosomal recessive myopathy caused by bi-allelic mutations in GNE. We report the case of a 36-year-old man who presented with typical clinical and pathological features of GNE myopathy including distal dominant muscle weakness from the age of 29 and numerous rimmed vacuoles on muscle biopsy. Targeted next-generation sequencing revealed a novel synonymous mutation, c.1500A>G (p.G500=), together with a common Japanese mutation c.620A>T (p.D207V). The cDNA analysis of the biopsied muscle revealed that this synonymous mutation creates a cryptic splice donor site that causes aberrant splicing. This report will expand our understanding of the genetic heterogeneity of GNE myopathy emphasizing the importance of interpreting synonymous variants in genetic testing.
Key words
Full text:
1
Database:
MEDLINE
Main subject:
RNA Splicing
/
Distal Myopathies
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Multienzyme Complexes
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Mutation
Limits:
Adult
/
Humans
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Male
Language:
En
Year:
2018
Type:
Article