Description:
EPIDERMOLYSIS BULLOSA, JUNCTIONAL 3B, SEVERE; JEB3B
LAMININ, GAMMA-2; LAMC2
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of Connective Tissue, Muscle, and Bone |
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Cell Type
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Fibroblast
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Transformant
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Untransformed
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Race
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White
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Ethnicity
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BELIZEAN
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Family Member
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1
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| Passage Frozen |
3 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| Gene |
LAMC2 |
| Chromosomal Location |
1q25.3 |
| Allelic Variant 1 |
150292.0001; EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE |
| Identified Mutation |
IVS8AS, G-A, -1; Pulkkinen et al. (1994) demonstrated an exon-skipping mutation in a female patient with the Herlitz-Pearson type of junctional epidermolysis bullosa. The patient had multiple erosions and hemorrhagic blisters. She had lost nails from the fingers and toes. There was no fusion of digits. The patient died at age 23. A similarly affected older sister had died at age 21. The parents were reportedly normal. The patient's DNA demonstrated a homozygous G-to-A substitution at the 3-prime acceptor splice site at the junction of intron 8 and exon 9, abolishing the obligatory splice site sequence, AG, and leading to aberrant in-frame splicing of exon 9 out of the mRNA transcript. The deletion was predicted to result in shortening of the kalinin gamma-2 chain by 73 amino acids within subdomains III and IV. The mother was heterozygous. Since the first nucleotide of exon 9 is 1184, Pulkkinen et al. (1994) referred to the mutation as 1184,-1,G-to-A.
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| Gene |
LAMC2 |
| Chromosomal Location |
1q25.3 |
| Allelic Variant 2 |
150292.0001; EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE |
| Identified Mutation |
IVS8AS, G-A, -1; Pulkkinen et al. (1994) demonstrated an exon-skipping mutation in a female patient with the Herlitz-Pearson type of junctional epidermolysis bullosa. The patient had multiple erosions and hemorrhagic blisters. She had lost nails from the fingers and toes. There was no fusion of digits. The patient died at age 23. A similarly affected older sister had died at age 21. The parents were reportedly normal. The patient's DNA demonstrated a homozygous G-to-A substitution at the 3-prime acceptor splice site at the junction of intron 8 and exon 9, abolishing the obligatory splice site sequence, AG, and leading to aberrant in-frame splicing of exon 9 out of the mRNA transcript. The deletion was predicted to result in shortening of the kalinin gamma-2 chain by 73 amino acids within subdomains III and IV. The mother was heterozygous. Since the first nucleotide of exon 9 is 1184, Pulkkinen et al. (1994) referred to the mutation as 1184,-1,G-to-A.
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| Remarks |
Hispanic; multiple eroded sites with blisters; some hemorrhagic blisters; loss of nails on fingers & toes; no fusion of digits; a similarly affected sister died at age 21; probably junctional type; see GM09591 Lymphoid |
| Pulkkinen L, Christiano AM, Airenne T, Haakana H, Tryggvason K, Uitto J, Mutations in the gamma 2 chain gene (LAMC2) of kalinin/laminin 5 in the junctional forms of epidermolysis bullosa Nature genetics6:293-7 1994 |
| PubMed ID: 8012393 |
| Passage Frozen |
3 |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
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