Becker muscular dystrophy patients with deletions around exon 51; a promising outlook for exon skipping therapy in Duchenne patients.
Theoretically, 13% of patients with Duchenne muscular dystrophy may benefit from antisense-mediated skipping of exon 51 to restore the reading frame, which results in the production of a shortened dystrophin protein. We give a detailed description with longitudinal follow up of three patients with Becker muscular dystrophy with in-frame deletions in the DMD gene encompassing exon 51. Their internally deleted, but essentially functional, dystrophins are identical to those that are expected as end products in DMD patients treated with the exon 51 skipping therapy. The mild phenotype encourages further development of exon 51 skipping therapy.
Helderman-van den Enden
A T J M
AT
Center for Human and Clinical Genetics, The Leiden University Medical Center, Einthovenweg 20, 2333 ZC Leiden, The Netherlands. Helderman@lumc.nl
Straathof
C S M
CS
Aartsma-Rus
A
A
den Dunnen
J T
JT
Verbist
B M
BM
Bakker
E
E
Verschuuren
J J G M
JJ
Ginjaar
H B
HB
D000293:Adolescent; D000368:Aged; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D016189:Dystrophin / Q000737:chemistry / Q000235:genetics* / Q000378:metabolism; D005091:Exons / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing; D015316:Genetic Therapy / Q000379:methods*; D006801:Humans; D008297:Male; D008875:Middle Aged; D008970:Molecular Weight; D020388:Muscular Dystrophy, Duchenne / Q000235:genetics* / Q000378:metabolism / Q000503:physiopathology; D009154:Mutation / Q000235:genetics*; D020320:Oligoribonucleotides, Antisense / Q000494:pharmacology / Q000627:therapeutic use; D016366:Open Reading Frames / Q000235:genetics; D010641:Phenotype; D012720:Severity of Illness Index
C484258:DMD protein, human; D016189:Dystrophin; D020320:Oligoribonucleotides, Antisense