NM_139058.3(ARX):c.309_341dup (p.Ala105_Ala115dup) AND Developmental and epileptic encephalopathy, 1

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 1, 2007
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:: RCV000011953.26

Allele description [Variation Report for NM_139058.3(ARX):c.309_341dup (p.Ala105_Ala115dup)]

NM_139058.3(ARX):c.309_341dup (p.Ala105_Ala115dup)

Genes:

LOC109610631:aristaless related homeobox polyalanine expansion region [Gene]
ARX:aristaless related homeobox [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

Xp21.3

Genomic location:

Preferred name:

NM_139058.3(ARX):c.309_341dup (p.Ala105_Ala115dup)

HGVS:

NC_000023.11:g.25013665_25013697dup
NG_008281.1:g.7263_7295dup
NG_052655.1:g.236_268dup
NM_139058.3:c.309_341dupMANE SELECT
NP_620689.1:p.Ala105_Ala115dup
NC_000023.10:g.25031770_25031771insGCCGCTGCCGCCGCCGCCGCCGCCGCCGCCGCC
NC_000023.10:g.25031782_25031814dup
NM_139058.2:c.298_330dupGCGGCAGCGGCGGCGGCGGCGGCGGCGGCGGCG

Note:

ClinGen staff contributed the HGVS expression for this variant.

Links:

OMIM: 300382.0017; dbSNP: rs1365611175

NCBI 1000 Genomes Browser:

rs1365611175

Molecular consequence:

NM_139058.3:c.309_341dup - inframe_insertion - [Sequence Ontology: SO:0001821]

Condition(s)

Name:: Developmental and epileptic encephalopathy, 1 (DEE1)
Synonyms:: INFANTILE SPASM SYNDROME, X-LINKED 1; X-linked infantile spasms; West's syndrome; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0010632; MedGen: C3463992; OMIM: 308350

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000032187	OMIM	no assertion criteria provided	Pathogenic (Aug 1, 2007)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000032187

OMIM

no assertion criteria provided

Pathogenic
(Aug 1, 2007)

germline

literature only

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

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

A longer polyalanine expansion mutation in the ARX gene causes early infantile epileptic encephalopathy with suppression-burst pattern (Ohtahara syndrome).

Kato M, Saitoh S, Kamei A, Shiraishi H, Ueda Y, Akasaka M, Tohyama J, Akasaka N, Hayasaka K.

Am J Hum Genet. 2007 Aug;81(2):361-6. Epub 2007 Jun 11.

PubMed [citation]

PMID:: 17668384
PMCID:: PMC1950814

Details of each submission

From OMIM, SCV000032187.8

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

In 2 of 3 unrelated male patients with developmental and epileptic encephalopathy (DEE1; 308350), who were clinically diagnosed with Ohtahara syndrome progressing to West syndrome, Kato et al. (2007) identified a de novo hemizygous 33-bp duplication in exon 2 of the ARX gene. The mutation was thought to expand the original 16 alanine residues to 27 alanine residues in the first polyalanine tract of the ARX protein. Kato et al. (2007) pointed to a total of 9 genes with expansion of the polyalanine tract resulting in human diseases. Clinical observations demonstrated the correlation between the length of the repeat and the severity of the clinical phenotype.

#	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: Oct 8, 2024

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