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Aberrant splicing in the LMNA gene caused by a novel mutation on the polypyrimidine tract of intron 5

✍ Scribed by Nicola Carboni; Matteo Floris; Anna Mateddu; Maurizio Porcu; Giovanni Marrosu; Elisabetta Solla; Eleonora Cocco; Marco Mura; Stefano Marini; Maria A. Maioli; Rachele Piras; Rinaldo Aste; Maria G. Marrosu

Publisher: John Wiley and Sons
Year: 2011
Tongue: English
Weight: 253 KB
Volume: 43
Category: Article
ISSN: 0148-639X
DOI: 10.1002/mus.21937

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✦ Synopsis

Introduction: Familial dilated cardiomyopathy with conduction system defects variably associated with skeletal muscle abnormalities is frequently caused by LMNA gene mutations. Methods: A family affected by cardiac abnormalities, either isolated or variably associated with skeletal muscle compromise, was identified. LMNA gene analysis was applied to all family members. Results: A novel intron 5 (c.937-11 C>G) mutation was identified. mRNA transcription analysis was subsequently performed, and cDNA was obtained from mutated patients. It displayed an aberrant splice product featuring the insertion of 40 nucleotides from intron 5, leading to a frameshift. Computational predictions identified a cryptic splice site 40 bp upstream from the canonical site; this alternative splicing event was elicited by intronic mutation, which seems to interfere with the polypyrimidine tract of the canonical site. Conclusions: We have described the first mutation on the LMNA gene interfering with the polypyrimidine tract. Our findings underline the importance of including introns in the search for mutations.

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