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NEUROLOGY 1998;51:592-595
© 1998 American Academy of Neurology

Giant dystrophin deletion associated with congenital cataract and mild muscular dystrophy

M. Mirabella, MD, G. Galluzzi, PhD, G. Manfredi, MD, E. Bertini, MD, E. Ricci, MD, R. De Leo, PhD, P. Tonali, MD and S. Servidei, MD

From the Department of Neurology (Drs. Mirabella, Manfredi, Bertini, Ricci, Tonali, and Servidei), Catholic University, Rome; IRCCS "Casa Sollievo della Sofferenza" (Dr. Tonali), San Giovanni Rotondo; Institute of Cell Biology (Drs. Galluzzi and De Leo), CNR, Rome; and UILDM of Rome, Center for Neuromuscular Diseases, Italy.

Address correspondence and reprint requests to Dr. Servidei, MD, Istituto di Neurologia, Universita' Cattolica del S. Cuore, Largo A. Gemelli 8, 00168 Rome, Italy.

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.

Received December 24, 1997. Accepted in final form April 3, 1998.




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