Giant dystrophin deletion associated with congenital cataract and mild muscular dystrophy.
We report a patient with a large intragenic dystrophin deletion of exons 17-51 inclusive associated with congenital cataract and mild Becker muscular dystrophy. The cataract was similar to the congenital cataract described in the mdx mouse. The loss of 68% of the rod domain including hinge 2 and 3 regions did not adversely affect the correct localization of the dystrophin and the association with the dystrophin-associated glycoprotein complex. This observation may have implications for minigenes suitable for gene therapy.
Mirabella
M
M
Department of Neurology, Catholic University, Rome, Italy.
Galluzzi
G
G
Manfredi
G
G
Bertini
E
E
Ricci
E
E
De Leo
R
R
Tonali
P
P
Servidei
S
S
D002386:Cataract / Q000151:congenital*; D002648:Child; D016189:Dystrophin / Q000235:genetics*; D005091:Exons; D017353:Gene Deletion; D006801:Humans; D008297:Male; D009136:Muscular Dystrophies / Q000235:genetics*; D016133:Polymerase Chain Reaction
D016189:Dystrophin