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NM_178152.2(DCX):c.574C>T (p.Arg192Trp) AND Lissencephaly, X-linked

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 16, 2011
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:
RCV000012357.15

Allele description

NM_178152.2(DCX):c.574C>T (p.Arg192Trp)

Gene:
DCX:doublecortin [Gene - OMIM]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq23
Genomic location:
Preferred name:
NM_178152.2(DCX):c.574C>T (p.Arg192Trp)
HGVS:
  • NC_000023.11:g.111401121G>A
  • NG_011750.1:g.16058C>T
  • NM_178151.2:c.574C>T
  • NM_178152.2:c.574C>T
  • NP_835364.1:p.Arg192Trp
  • NP_835365.1:p.Arg192Trp
  • NC_000023.10:g.110644349G>A
Protein change:
R192W; ARG192TRP
Links:
OMIM: 300121.0002; dbSNP: rs104894780
NCBI 1000 Genomes Browser:
rs104894780
Molecular consequence:
  • NM_178152.2:c.574C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Lissencephaly, X-linked (LISX1)
Synonyms:
LISSENCEPHALY, X-LINKED, 1; Lissencephaly and agenesis of corpus callosum; Subcortical laminar heterotopia, X-linked
Identifiers:
MedGen: C1848199; Orphanet: 2148; OMIM: 300067
Age of onset:
Neonatal/infancy
Prevalence:
A Dutch study reported a prevalence of 1:85,000 for lissencephaly type 1. However, the study presumably included individuals with non-DCX-related lissencephaly.

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000032591OMIM
no assertion criteria provided
Pathogenic
(Dec 16, 2011) 		germlineliterature only

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

Help

Summary from all submissions

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

Citations

PubMed

A novel CNS gene required for neuronal migration and involved in X-linked subcortical laminar heterotopia and lissencephaly syndrome.

des Portes V, Pinard JM, Billuart P, Vinet MC, Koulakoff A, Carrié A, Gelot A, Dupuis E, Motte J, Berwald-Netter Y, Catala M, Kahn A, Beldjord C, Chelly J.

Cell. 1998 Jan 9;92(1):51-61.

PubMed [citation]
PMID:
9489699

Doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein.

Gleeson JG, Allen KM, Fox JW, Lamperti ED, Berkovic S, Scheffer I, Cooper EC, Dobyns WB, Minnerath SR, Ross ME, Walsh CA.

Cell. 1998 Jan 9;92(1):63-72.

PubMed [citation]
PMID:
9489700

Details of each submission

From OMIM, SCV000032591.1

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

Description

In affected members of a family with X-linked lissencephaly or subcortical laminar heterotopia (300067), des Portes et al. (1998) identified a 989C-T transition in the DCX gene, resulting in an arg192-to-trp (R192W) substitution. Gleeson et al. (1998) independently found the same mutation in a different family with the disorder. The substitution occurred in a CG hypermutable dinucleotide.

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

Last Updated: Aug 31, 2015