Since<unk>  results from the loss of a gene, gene therapy that adds the proper protein back ("gene replacement") may alleviate it, provided the added protein becomes functional. Recent studies of mouse models have shown one form of the disease—that associated with a mutation in myosin VIIa—can be alleviated by replacing the mutant gene<unk> ing a lentivirus. However, some of the mutated genes associated with<unk>  encode very large proteins—most notably, the<unk> H2A and GPR98 proteins, which have roughly 6000 amino-acid residues. Gene replacement therapy for such large proteins may be difficult.
Usher syndrome
Myhre syndrome
Sly syndrome
Irlen syndrome
McGillivray syndrome
Fabry disease
Bart syndrome
Sugarman syndrome