U.S. flag

An official website of the United States government

NM_022821.4(ELOVL1):c.376-2A>G AND Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 20, 2022
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:
RCV002248361.1

Allele description [Variation Report for NM_022821.4(ELOVL1):c.376-2A>G]

NM_022821.4(ELOVL1):c.376-2A>G

Genes:
ELOVL1:ELOVL fatty acid elongase 1 [Gene - OMIM - HGNC]
MIR6734:microRNA 6734 [Gene - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p34.2
Genomic location:
Preferred name:
NM_022821.4(ELOVL1):c.376-2A>G
HGVS:
  • NC_000001.11:g.43364649T>C
  • NM_001256399.2:c.376-2A>G
  • NM_001256401.2:c.295-2A>G
  • NM_001256402.2:c.133-2A>G
  • NM_022821.4:c.376-2A>GMANE SELECT
  • NC_000001.10:g.43830320T>C
  • NR_106792.1:n.67A>G
Nucleotide change:
IVS5AS, A-G, -2
Links:
OMIM: 611813.0002; dbSNP: rs2153923212
NCBI 1000 Genomes Browser:
rs2153923212
Molecular consequence:
  • NR_106792.1:n.67A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_001256399.2:c.376-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001256401.2:c.295-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001256402.2:c.133-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_022821.4:c.376-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

Name:
Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features
Identifiers:
MONDO: MONDO:0032798; MedGen: C5193147; OMIM: 618527

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002520447OMIM
no assertion criteria provided
Pathogenic
(Apr 20, 2022) 		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

Hypomyelinating spastic dyskinesia and ichthyosis caused by a homozygous splice site mutation leading to exon skipping in ELOVL1.

Takahashi T, Mercan S, Sassa T, Akçapınar GB, Yararbaş K, Süsgün S, İşeri SAU, Kihara A, Akçakaya NH.

Brain Dev. 2022 Jun;44(6):391-400. doi: 10.1016/j.braindev.2022.03.003. Epub 2022 Apr 2.

PubMed [citation]
PMID:
35379526

Details of each submission

From OMIM, SCV002520447.1

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

Description

In 2 sibs, born of consanguineous parents, with autosomal recessive ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features (IKSHD; 618527), Takahashi et al. (2022) identified a homozygous A-to-G transition in intron 5 (c.376-2A-G, ENST00000372458.8) of the ELOVL1 gene, resulting in a splicing defect. The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. Analysis of patient cells confirmed the skipping of exon 6 and an aberrant splice product. Patient skin samples showed low levels of acylceramides, particularly C25/C26 and greater, and defects in the synthesis of very long chain fatty acids. The parents were clinically unaffected.

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

Last Updated: Dec 24, 2023