Herlitz's junctional epidermolysis bullosa is linked to mutations in the gene (LAMC2) for the gamma 2 subunit of nicein/kalinin (LAMININ-5).
We have linked Herlitz's junctional epidermolysis bullosa (H-JEB) to the gene (LAMC2) encoding the gamma 2 subunit of nicein/kalinin, an isolaminin (laminin-5) expressed by basal keratinocytes. In four H-JEB kindreds, a maximum two-point lod score of 5.33 at theta = 0 was observed between a microsatellite near LAMC2 at 1q25-31 and the disease. In one family, a homozygous point mutation leading to a premature stop codon (CGA to TGA) was identified in exon 3 of the gene. The segregation of the mutated allele implicates the mutation in the pathology of the disorder and corroborates the linkage results.
Aberdam
D
D
INSERM U385, Faculté de Médecine, Nice, France.
Galliano
M F
MF
Vailly
J
J
Pulkkinen
L
L
Bonifas
J
J
Christiano
A M
AM
Tryggvason
K
K
Uitto
J
J
Epstein
E H
EH
Ortonne
J P
JP
D001483:Base Sequence; D015815:Cell Adhesion Molecules / Q000235:genetics*; D017931:DNA Primers / Q000235:genetics; D016109:Epidermolysis Bullosa, Junctional / Q000235:genetics*; D005260:Female; D015870:Gene Expression; D008040:Genetic Linkage; D006801:Humans; D007797:Laminin / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D009838:Oligodeoxyribonucleotides / Q000235:genetics; D010375:Pedigree; D012091:Repetitive Sequences, Nucleic Acid; D000097794:Kalinin
D015815:Cell Adhesion Molecules; D017931:DNA Primers; D007797:Laminin; D009838:Oligodeoxyribonucleotides; D000097794:Kalinin