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Deletion of exon 16 of the dystrophin gene is not associated with disease
Author(s) -
Schwartz Marianne,
Dunø Morten,
Palle Anne Lise,
Krag Thomas,
Vissing John
Publication year - 2007
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.9477
Subject(s) - biology , exon , dystrophin , genetics , gene , muscular dystrophy , muscle biopsy , intron , phenotype , biopsy , pathology , medicine
The DNA of a male harbored a deletion of exon 16 as well as most of introns 15 and 16 of the dystrophin gene. The person was completely healthy, with universal normal muscle strength, and normal muscle histology and creatine kinase levels. The deletion was also present in DNA from a muscle biopsy, excluding mosaicism as an explanation for the phenotype. We conclude that the protein segment encoded by exon 16 of the dystrophin gene is of no importance for the essential function of dystrophin. The findings suggest that even large gene re‐arrangements of the dystrophin gene may not always be disease‐causing, and caution a diagnosis of dystrophinopathy in sporadic cases of single exon in‐frame deletions. © 2007 Wiley‐Liss, Inc.