RGD Reference Report - Mutations in the gamma 2 chain gene (LAMC2) of kalinin/laminin 5 in the junctional forms of epidermolysis bullosa. - Rat Genome Database

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Mutations in the gamma 2 chain gene (LAMC2) of kalinin/laminin 5 in the junctional forms of epidermolysis bullosa.

Authors: Pulkkinen, L  Christiano, AM  Airenne, T  Haakana, H  Tryggvason, K  Uitto, J 
Citation: Pulkkinen L, etal., Nat Genet. 1994 Mar;6(3):293-7.
RGD ID: 1600210
Pubmed: PMID:8012393   (View Abstract at PubMed)
DOI: DOI:10.1038/ng0394-293   (Journal Full-text)

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.




  
Object Symbol
Species
Term
Qualifier
Evidence
With
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Source
Original Reference(s)
LAMC2Humanjunctional epidermolysis bullosa susceptibilityIAGP DNA:splice-site mutation, deletion-insertionRGD 
Lamc2Ratjunctional epidermolysis bullosa susceptibilityISORGD:1315384DNA:splice-site mutation, deletion-insertionRGD 
Lamc2Mousejunctional epidermolysis bullosa susceptibilityISORGD:1315384DNA:splice-site mutation, deletion-insertionRGD 


Genes (Rattus norvegicus)
Lamc2  (laminin subunit gamma 2)

Genes (Mus musculus)
Lamc2  (laminin, gamma 2)

Genes (Homo sapiens)
LAMC2  (laminin subunit gamma 2)