NM_000228.2(LAMB3):c.124C>T (p.Arg42Ter) AND Adult junctional epidermolysis bullosa

Clinical significance:Pathogenic (Last evaluated: Jul 1, 2008)

Review status:(1/4)1 star out of maximum of 4 stars

classified by single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000015642.25

Allele description [Variation Report for NM_000228.2(LAMB3):c.124C>T (p.Arg42Ter)]

Gene:
LAMB3:laminin, beta 3 [Gene - OMIM]
Variant type:
single nucleotide variant
Cytogenetic location:
1q32.2
Genomic location:
Preferred name:
NM_000228.2(LAMB3):c.124C>T (p.Arg42Ter)
HGVS:
  • NC_000001.11:g.209650023G>A
  • NG_007116.1:g.7453C>T
  • NM_000228.2:c.124C>T
  • NP_000219.2:p.Arg42Ter
  • NC_000001.10:g.209823368G>A
Protein change:
R42*; ARG42TER
Links:
GeneReviews: NBK1125; OMIM: 150310.0002; OMIM: 150310.0003; dbSNP: 80356680
NCBI 1000 Genomes Browser:
rs80356680
Molecular consequence:
  • NM_000228.2:c.124C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Adult junctional epidermolysis bullosa (GABEB)
Synonyms:
EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE; EPIDERMOLYSIS BULLOSA JUNCTIONALIS, NON-HERLITZ TYPE; Epidermolysis bullosa, generalized atrophic benign; See all synonyms [MedGen]
Identifiers:
MedGen: C0268374; OMIM: 226650; Orphanet: 251393; Orphanet: 79402; Orphanet: 79405; Orphanet: 89840
Age of onset:
Neonatal/infancy
Prevalence:
<1 / 1 000 000 2513938984079405

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Assertion and evidence details

Submission AccessionSubmitterReview StatusClinical Significance
(Last evaluated)
OriginMethodConsequenceCitations
SCV000035905OMIMPathogenic
(Jul 1, 2008)
germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedAlleles observedFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Altered laminin 5 expression due to mutations in the gene encoding the beta 3 chain (LAMB3) in generalized atrophic benign epidermolysis bullosa.

McGrath JA, Pulkkinen L, Christiano AM, Leigh IM, Eady RA, Uitto J.

J Invest Dermatol. 1995 Apr;104(4):467-74.

PubMed [citation]
PMID:
7706760

Details of each submission

From OMIM, SCV000035905.1

#EthnicityAlleles ObservedChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a family with non-Herlitz type of junctional epidermolysis bullosa (226650), McGrath et al. (1995) demonstrated compound heterozygosity for mutations in the LAMB3 gene: a 123C-T transition in exon 3, resulting in an arg-to-ter substitution, and a 628G--A transition in the last nucleotide of exon 7, which caused a missense mutation, substituting lysine (AAG) for glutamic acid (GAG) (150310.0006). (The authors did not report the codon residue numbers of the mutations.) Immunofluorescence microscopy of the skin basement-membrane zone with monoclonal antibody revealed reduced anti-laminin-5 staining compared with normal controls. The labeling, when examined by immunoelectron microscopy, was present within the lower lamina lucida, immediately below the plane of blister formation.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodVariant allelesAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 1, 2014

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