NM_139058.3(ARX):c.1187dup (p.Gly397fs) AND X-linked lissencephaly with abnormal genitalia

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Nov 1, 2002
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:: RCV000011945.9

Allele description [Variation Report for NM_139058.3(ARX):c.1187dup (p.Gly397fs)]

NM_139058.3(ARX):c.1187dup (p.Gly397fs)

Gene:

ARX:aristaless related homeobox [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

Xp21.3

Genomic location:

Preferred name:

NM_139058.3(ARX):c.1187dup (p.Gly397fs)

HGVS:

NC_000023.11:g.25007377dup
NG_008281.1:g.13577dup
NM_139058.3:c.1187dupMANE SELECT
NP_620689.1:p.Gly397fs
NC_000023.10:g.25025488_25025489insG
NC_000023.10:g.25025494dup
NM_139058.2:c.1187dup
NM_139058.2:c.1187dupC

Note:

ClinGen staff contributed the HGVS expression for this variant.

Protein change:

G397fs

Links:

OMIM: 300382.0009; dbSNP: rs1328291159

NCBI 1000 Genomes Browser:

rs1328291159

Molecular consequence:

NM_139058.3:c.1187dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: X-linked lissencephaly with abnormal genitalia
Synonyms:: Lissencephaly 2, X-linked
Identifiers:: MONDO: MONDO:0010268; MedGen: C1846171; Orphanet: 452; OMIM: 300215

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000032179	OMIM	no assertion criteria provided	Pathogenic (Nov 1, 2002)	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

SCV000032179

OMIM

no assertion criteria provided

Pathogenic
(Nov 1, 2002)

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

Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans.

Kitamura K, Yanazawa M, Sugiyama N, Miura H, Iizuka-Kogo A, Kusaka M, Omichi K, Suzuki R, Kato-Fukui Y, Kamiirisa K, Matsuo M, Kamijo S, Kasahara M, Yoshioka H, Ogata T, Fukuda T, Kondo I, Kato M, Dobyns WB, Yokoyama M, Morohashi K.

Nat Genet. 2002 Nov;32(3):359-69. Epub 2002 Oct 15.

PubMed [citation]

PMID:: 12379852

Details of each submission

From OMIM, SCV000032179.2

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

Description

In their proband 5 with X-linked lissencephaly with abnormal genitalia (LISX2; 300215), Kitamura et al. (2002) found a single-nucleotide insertion at nucleotide 1188 (1188insC) in exon 4 of the ARX gene, resulting in a truncated protein containing the 396 N-terminal amino acids plus an additional 134 residues.

#	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: Sep 29, 2024

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