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NM_000213.5(ITGB4):c.3977-19T>A AND Junctional epidermolysis bullosa with pyloric atresia

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 1, 1999
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000015860.35

Allele description [Variation Report for NM_000213.5(ITGB4):c.3977-19T>A]

NM_000213.5(ITGB4):c.3977-19T>A

Genes:
GALK1:galactokinase 1 [Gene - OMIM - HGNC]
ITGB4:integrin subunit beta 4 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q25.1
Genomic location:
Preferred name:
NM_000213.5(ITGB4):c.3977-19T>A
HGVS:
  • NC_000017.11:g.75752427T>A
  • NG_007372.1:g.35993T>A
  • NG_007372.2:g.35970T>A
  • NG_008079.2:g.17773A>T
  • NM_000213.5:c.3977-19T>AMANE SELECT
  • NM_001005619.1:c.3977-19T>A
  • NM_001005731.3:c.3977-19T>A
  • NM_001321123.2:c.3977-19T>A
  • NM_001381985.1:c.*23-690A>T
  • LRG_1430:g.17773A>T
  • NC_000017.10:g.73748508T>A
Nucleotide change:
IVS31DS, T-A, -19
Links:
OMIM: 147557.0011; dbSNP: rs1434530468
NCBI 1000 Genomes Browser:
rs1434530468
Molecular consequence:
  • NM_000213.5:c.3977-19T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001005619.1:c.3977-19T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001005731.3:c.3977-19T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001321123.2:c.3977-19T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001381985.1:c.*23-690A>T - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Junctional epidermolysis bullosa with pyloric atresia
Synonyms:
EB-PA-ACC; Epidermolysis bullosa with pyloric atresia; Carmi syndrome; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009183; MedGen: C5676875; Orphanet: 79403; OMIM: 226730

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000036127OMIM
no assertion criteria provided
Pathogenic
(Oct 1, 1999) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Splicing modulation of integrin beta4 pre-mRNA carrying a branch point mutation underlies epidermolysis bullosa with pyloric atresia undergoing spontaneous amelioration with ageing.

Chavanas S, Gache Y, Vailly J, Kanitakis J, Pulkkinen L, Uitto J, Ortonne J, Meneguzzi G.

Hum Mol Genet. 1999 Oct;8(11):2097-105.

PubMed [citation]
PMID:
10484780

Details of each submission

From OMIM, SCV000036127.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

Chavanas et al. (1999) reported a patient who represented the rare instance in which epidermolysis bullosa with pyloric atresia (JEB5B; 226730) shows improvement with age. The proband was a 14-year-old boy, the child of nonconsanguineous parents, who at birth presented all the hallmarks of severe PA-JEB, including extensive skin blistering, pyloric atresia, and urethrovesical occlusion. As the child grew, however, the blistering tendency decreased and his skin and epithelia acquired resistance to trauma. At the age of 14, induction of blisters required prolonged rubbing of the skin. In this patient, Chavanas et al. (1999) found compound heterozygosity for the intron 30 splice donor site mutation (3802+1G-A; 147557.0007) and a novel T-to-A transversion at nucleotide 3986-19 in intron 31 of the ITGB4 gene.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 10, 2024