A novel mutation in exon b (R259C) of the MTM1 gene is associated with a mild myotubular myopathy.
Date
1998
Authors
Donnelly, A.
Haan, E.
Manson, J.
Mulley, J.
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Journal article
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Human Mutation, 1998; 11(4):334-
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Abstract
The genetic basis of the relatively mild myopathic symptoms exhibited in a male was investigated. Mutation screening of a candidate gene, MTM1, represented a chance of establishing the molecular defect and the mode of inheritance. SSCA detected variation of the exon b PCR products from the proband and his mother, compared to that observed upon analysis of the PCR products from other members of the family and 159 unrelated X chromosomes. Sequencing revealed a C775 to T transition, in the proband and his mother, but not in his unaffected brother. To confirm the presence of a base change in this region, a Cfol site was introduced into the PCR product of the wildtype allele by using the forward primer 5'-AGAAAATAAGACGGTCATTGcG-3' (mismatch base in small font) with the exon b reverse primer as used by Laporte et al (1996). Analysis of DNA from other members of the family using this method revealed that this is a new mutation in the proband's mother. This mutation would result in a Arg259->Cys substitution.
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Article first published online: 22 NOV 1999
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Copyright © 1998 Wiley-Liss, Inc.