Mutations in the gamma 2 chain gene (LAMC2) of kalinin/laminin 5 in the junctional forms of epidermolysis bullosa.
Junctional epidermolysis bullosa (JEB) is an autosomal recessive disorder characterized by blister formation within the dermal-epidermal basement membrane. Genes for the lamina lucida protein, kalinin/laminin 5, have been proposed as candidates for some forms of JEB, based on immunofluorescence analysis recognizing kalinin epitopes. We studied the cDNA of laminin gamma 2 chain for mutations in JEB using heteroduplex analysis. One patient showed a homozygous splice site mutation while another was heterozygous for a deletion-insertion, resulting in a premature termination codon in one allele. Our data implicate mutations in the laminin gamma 2 chain gene (LAMC2) in some forms of JEB.
Pulkkinen
L
L
Department of Dermatology, Jefferson Medical College, Thomas Jefferson University, Philadelphia, Pennsylvania 19107.
Christiano
A M
AM
Airenne
T
T
Haakana
H
H
Tryggvason
K
K
Uitto
J
J
D001483:Base Sequence; D015815:Cell Adhesion Molecules / Q000737:chemistry / Q000235:genetics*; D017931:DNA Primers / Q000235:genetics; D018076:DNA, Complementary / Q000235:genetics; D016109:Epidermolysis Bullosa, Junctional / Q000235:genetics* / Q000378:metabolism; D005091:Exons; D005260:Female; D005808:Genes, Recessive; D006720:Homozygote; D006801:Humans; D007797:Laminin / Q000737:chemistry / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D015394:Molecular Structure; D009154:Mutation; D010375:Pedigree; D017354:Point Mutation; D017384:Sequence Deletion; D000097794:Kalinin
D015815:Cell Adhesion Molecules; D017931:DNA Primers; D018076:DNA, Complementary; D007797:Laminin; D000097794:Kalinin