Lariat branch point mutation in the dysferlin gene with mild limb-girdle muscular dystrophy.
The authors report a genotype-phenotype correlation in a limb-girdle muscular dystrophy 2B family. Two severely affected sisters were homozygous for a dysferlin null mutation. Their mildly affected compound heterozygous mother harbored, in addition to one null allele, an in-frame exon-skipping allele caused by a novel lariat branch point mutation. The dysferlin molecule arising from the latter allele appeared to partially complement the null mutation, likely accounting for the mother's mild phenotype.
Sinnreich
Michael
M
Montreal Neurological Institute, McGill University, Montreal, Quebec, Canada. michael.sinnreich@mcgill.ca
Therrien
Christian
C
Karpati
George
G
D000368:Aged; D000073939:Dysferlin; D005260:Female; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*; D009124:Muscle Proteins / Q000235:genetics*; D018482:Muscle, Skeletal / Q000473:pathology; D049288:Muscular Dystrophies, Limb-Girdle / Q000235:genetics* / Q000473:pathology; D017354:Point Mutation
C114839:DYSF protein, human; D000073939:Dysferlin; D008565:Membrane Proteins; D009124:Muscle Proteins