Paternal inheritance or a de novo mutation in a Duchenne Muscular Dystrophy pedigree from South India.
A six year old boy presented with classical features of Duchenne Muscular Dystrophy (DMD) and was confirmed by absent dystrophin staining on muscle biopsy. In the paternal line there were 5 affected individuals across two generations with classical DMD. There was no family history of the illness in the maternal line. Molecular genetics analysis by PCR of the exons showed a deletion in exon 45 in two affected individuals. Microsatellite analysis showed that though the deletion was observed in the same locus in exon 45 it is a new independent mutation.
Purushottam
Meera
M
Molecular Genetics Laboratory, Department of Psychiatry, National Institute of Mental Health and Neurosciences, Bangalore, India.
Murthy
A Ram
AR
Shubha
G N
GN
Gayathri
N
N
Nalini
A
A
D002648:Child; D004252:DNA Mutational Analysis; D016189:Dystrophin / Q000235:genetics*; D005091:Exons / Q000235:genetics; D006801:Humans; D007194:India; D008297:Male; D018895:Microsatellite Repeats / Q000235:genetics*; D018482:Muscle, Skeletal / Q000473:pathology; D020388:Muscular Dystrophy, Duchenne / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D017384:Sequence Deletion / Q000235:genetics*
D016189:Dystrophin