Elevation of serum creatine kinase as the only manifestation of an intragenic deletion of the dystrophin gene in three unrelated families.
This study reports three children from three unrelated families, aged from 9 to 12 years, who were investigated because of the incidental finding of elevated serum creatine kinase (CK) levels and were found to have a dystrophinopathy. The molecular defect consisted of a deletion of variable extent within the central rod domain of the dystrophin gene, involving either exons 32-44 or 48-51 or 48-53. In each family we found the same deletion in at least one adult male relative aged from 40 to 77 years, who was either completely asymptomatic or had very mild muscle involvement (thin muscles and/or mild scoliosis), with normal or borderline CK levels. This study suggests once again that deletions of the central rod domain of dystrophin may be associated with elevation of serum CK as the only manifestation and that prediction of the clinical severity based solely on the molecular findings should be interpreted with caution.
Melis
M A
MA
Istituto Clinica e Biologia dell'Età Evolutiva, Università di Cagliari, Italy.
Cau
M
M
Muntoni
F
F
Mateddu
A
A
Galanello
R
R
Boccone
L
L
Deidda
F
F
Loi
D
D
Cao
A
A
D000328:Adult; D001707:Biopsy, Needle; D002648:Child; D003402:Creatine Kinase / Q000097:blood*; D018076:DNA, Complementary / Q000235:genetics; D016189:Dystrophin / Q000172:deficiency* / Q000235:genetics*; D005091:Exons / Q000235:genetics; D017353:Gene Deletion; D006801:Humans; D008297:Male; D018482:Muscle, Skeletal / Q000473:pathology; D020388:Muscular Dystrophy, Duchenne / Q000175:diagnosis* / Q000235:genetics*; D010375:Pedigree; D012333:RNA, Messenger / Q000235:genetics; D020133:Reverse Transcriptase Polymerase Chain Reaction / Q000379:methods; D012720:Severity of Illness Index
D018076:DNA, Complementary; D016189:Dystrophin; D012333:RNA, Messenger; D003402:Creatine Kinase