Plectin deficiency results in muscular dystrophy with epidermolysis bullosa.
We report that mutation in the gene for plectin, a cytoskeleton-membrane anchorage protein, is a cause of autosomal recessive muscular dystrophy associated with skin blistering (epidermolysis bullosa simplex). The evidence comes from absence of plectin by antibody staining in affected individuals from four families, supportive genetic analysis (localization of the human plectin gene to chromosome 8q24.13-qter and evidence for disease segregation with markers in this region) and finally the identification of a homozygous frameshift mutation detected in plectin cDNA. Absence of the large multifunctional cytoskeleton protein plectin can simultaneously account for structural failure in both muscle and skin.
Smith
F J
FJ
Department of Anatomy and Physiology, Medical Sciences Institute, University of Dundee, UK.
Eady
R A
RA
Leigh
I M
IM
McMillan
J R
JR
Rugg
E L
EL
Kelsell
D P
DP
Bryant
S P
SP
Spurr
N K
NK
Geddes
J F
JF
Kirtschig
G
G
Milana
G
G
de Bono
A G
AG
Owaribe
K
K
Wiche
G
G
Pulkkinen
L
L
Uitto
J
J
McLean
W H
WH
Lane
E B
EB
D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D015815:Cell Adhesion Molecules / Q000235:genetics*; D002874:Chromosome Mapping; D002898:Chromosomes, Human, Pair 8; D017931:DNA Primers / Q000737:chemistry; D003896:Desmosomes / Q000378:metabolism; D004820:Epidermolysis Bullosa / Q000235:genetics*; D005808:Genes, Recessive; D006239:Haplotypes; D006801:Humans; D007365:Intercellular Junctions / Q000502:physiology; D007381:Intermediate Filament Proteins / Q000172:deficiency / Q000235:genetics*; D008969:Molecular Sequence Data; D009132:Muscles / Q000378:metabolism; D009136:Muscular Dystrophies / Q000235:genetics*; D010375:Pedigree; D051190:Plectin; D017354:Point Mutation; D051381:Rats; D016415:Sequence Alignment; D017386:Sequence Homology, Amino Acid; D012867:Skin / Q000378:metabolism
D015815:Cell Adhesion Molecules; D017931:DNA Primers; D007381:Intermediate Filament Proteins; C495332:PLEC protein, human; C495334:Plec protein, rat; D051190:Plectin