Asymptomatic Becker muscular dystrophy in a family with a multiexon deletion.
We report a Becker muscular dystrophy (BMD) family with one 5-year-old affected patient and a 69-year-old asymptomatic grandfather. Dystrophin gene multiplex polymerase chain reaction and multiplex ligation-dependant probe amplification analysis showed that both males carried an in-frame deletion of exons 45-55. Segregation analysis revealed two additional asymptomatic boys in this family. Our finding supports previous predictions that exons 45-55 are the optimal multiexon skipping target in antisense gene therapy to transform the severe Duchenne muscular dystrophy into the milder BMD, or even asymptomatic, phenotype.
Ferreiro
Verónica
V
Genetics Division, Clinical Hospital "José de San Martín," University of Buenos Aires, 2250 Paraguay, 1120 Buenos Aires, Argentina. vferreiro@ffyb.uba.ar
Giliberto
Florencia
F
Muñiz
García M Noelia
GM
Francipane
Liliana
L
Marzese
Diego M
DM
Mampel
Alejandra
A
Roqué
María
M
Frechtel
Gustavo D
GD
Szijan
Irene
I
D000368:Aged; D002675:Child, Preschool; D016189:Dystrophin / Q000235:genetics*; D005091:Exons / Q000235:genetics*; D005192:Family Health; D005260:Female; D018628:Gene Dosage; D006801:Humans; D008297:Male; D020388:Muscular Dystrophy, Duchenne / Q000235:genetics*; D017421:Sequence Analysis; D017384:Sequence Deletion / Q000235:genetics*
D016189:Dystrophin