NM_021978.4(ST14):c.2269+1G>A AND Autosomal recessive congenital ichthyosis 11

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Apr 1, 2009
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:: RCV000114359.3

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:: Autosomal recessive congenital ichthyosis 11
Synonyms:: Ichthyosis with hypotrichosis, autosomal recessive
Identifiers:: MONDO: MONDO:0011218; MedGen: C1835851; Orphanet: 91132; OMIM: 602400

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000147971	OMIM	no assertion criteria provided	Pathogenic (Apr 1, 2009)	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 9450882, 18843291

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000147971

OMIM

no assertion criteria provided

Pathogenic
(Apr 1, 2009)

germline

literature only

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature 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, SCV000147971.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature 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.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Dec 7, 2024

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