Familial isolated hyperCKaemia associated with a new mutation in the caveolin-3 (CAV-3) gene.
An 18 year old man and his mother both presented with persistent, isolated raised serum creatine kinase (hyperCKaemia) without muscle symptoms. Analysis of caveolin-3 protein expression in muscle biopsy of the propositus showed a reduction in the protein. Genetic analysis revealed a new heterozygous mutation in the caveolin-3 (CAV-3) gene: a C-->T transition at nucleotide position 83 in exon 1 leading to a substitution of a proline for a leucine at amino acid position 28 (P28L). This is the first pathogenic mutation in the CAV-3 gene associated with isolated familial hyperCKaemia. It expands the genetic heterogeneity in patients with caveolin-3 deficiency and confirms that caveolin-3 deficiency should be considered in the differential diagnosis of isolated hyperCKaemia.
Merlini
L
L
Neuromuscular Disease Unit, Istituto Ortopedico Rizzoli, Bologna, Italy.
Carbone
I
I
Capanni
C
C
Sabatelli
P
P
Tortorelli
S
S
Sotgia
F
F
Lisanti
M P
MP
Bruno
C
C
Minetti
C
C
D000328:Adult; D001706:Biopsy; D051244:Caveolin 3; D022461:Caveolins / Q000172:deficiency* / Q000235:genetics*; D003402:Creatine Kinase / Q000097:blood* / Q000235:genetics; D005260:Female; D006579:Heterozygote; D006801:Humans; D007150:Immunohistochemistry; D007930:Leucine / Q000378:metabolism; D008297:Male; D008875:Middle Aged; D009124:Muscle Proteins / Q000172:deficiency* / Q000235:genetics*; D018482:Muscle, Skeletal / Q000737:chemistry; D009154:Mutation; D011392:Proline / Q000378:metabolism
D051244:Caveolin 3; D022461:Caveolins; D009124:Muscle Proteins; D011392:Proline; D003402:Creatine Kinase; D007930:Leucine