NM_021978.4(ST14):c.2269+1G>A AND Ichthyosis, congenital, autosomal recessive 11

Clinical significance:Pathogenic (Last evaluated: Apr 1, 2009)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000114359.2

Allele description [Variation Report for NM_021978.4(ST14):c.2269+1G>A]

NM_021978.4(ST14):c.2269+1G>A

Gene:
ST14:ST14 transmembrane serine protease matriptase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q24.3
Genomic location:
Preferred name:
NM_021978.4(ST14):c.2269+1G>A
HGVS:
  • NC_000011.10:g.130208685G>A
  • NG_012132.1:g.53899G>A
  • NM_021978.4:c.2269+1G>AMANE SELECT
  • NC_000011.9:g.130078580G>A
  • NM_021978.3:c.2269+1G>A
Nucleotide change:
IVSDS17, G-A, +1
Links:
OMIM: 606797.0003; dbSNP: rs587777262
NCBI 1000 Genomes Browser:
rs587777262
Molecular consequence:
  • NM_021978.4:c.2269+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:
Ichthyosis, congenital, autosomal recessive 11 (ARCI11)
Synonyms:
Ichthyosis with hypotrichosis, autosomal recessive
Identifiers:
MONDO: MONDO:0011218; MedGen: C1835851; Orphanet: 91132; OMIM: 602400

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000147971OMIMno assertion criteria providedPathogenic
(Apr 1, 2009)
germlineliterature only

PubMed (2)
[See all records that cite these PMIDs]

Summary from all submissions

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

Citations

PubMed

Congenital ichthyosis, follicular atrophoderma, hypotrichosis, and hypohidrosis: a new genodermatosis?

Lestringant GG, Küster W, Frossard PM, Happle R.

Am J Med Genet. 1998 Jan 13;75(2):186-9.

PubMed [citation]
PMID:
9450882

Ichthyosis, follicular atrophoderma, and hypotrichosis caused by mutations in ST14 is associated with impaired profilaggrin processing.

Alef T, Torres S, Hausser I, Metze D, Türsen U, Lestringant GG, Hennies HC.

J Invest Dermatol. 2009 Apr;129(4):862-9. doi: 10.1038/jid.2008.311. Epub 2008 Oct 9.

PubMed [citation]
PMID:
18843291

Details of each submission

From OMIM, SCV000147971.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)

Description

In 5 affected sibs from a consanguineous Emirati Bedouin family segregating congenital ichthyosis and hypotrichosis with follicular atrophoderma (ARCI11; 602400), originally reported by Lestringant et al. (1998), Alef et al. (2009) identified homozygosity for a c.2269+1G-A transition in intron 17 of the ST14 gene that segregated with disease in the family. Minigene assay in HEK293 cells revealed several splice products, all predicted to result in premature stop codons, with Val727AlafsTer5 being the major mutant peptide.

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

Last Updated: Feb 6, 2021

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