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Loss of a single amino acid from dystrophin resulting in Duchenne muscular dystrophy with retention of dystrophin protein

✍ Scribed by Kristin Becker; Stephanie A. Robb; Zandra Hatton; Shu Ching Yau; Stephen Abbs; Roland G. Roberts

Publisher: John Wiley and Sons
Year: 2003
Tongue: English
Weight: 150 KB
Volume: 21
Category: Article
ISSN: 1059-7794
DOI: 10.1002/humu.9143

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✦ Synopsis

Almost all of the thousands of pathogenic mutations which have been described in the dystrophin gene either reduce protein production or remove large regions of the protein. This has severely limited the use of mutational information for the functional dissection of the dystrophin protein and increases the value of rare subtle mutations. We report a 3-bp deletion which removes a single highly conserved residue (glutamic acid 3367) adjacent to the dystrophin ZZ domain. This results in a phenotype of Duchenne muscular dystrophy with substantial retention of a presumably functionally compromised dystrophin protein. Two missense mutations (both affecting nearby residues) have been previously reported to result in this unusual combination of severe phenotype and high protein level. We discuss the functional implications of this and other mutations in the light of the predicted structure of the region. The pathogenicity of E3367del serves to emphasise the functional importance of this region of the dystrophin protein.

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