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NM_002653.4(PITX1):c.388G>A (p.Glu130Lys) AND Talipes equinovarus

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 1, 2008
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:
RCV000007934.5

Allele description

NM_002653.4(PITX1):c.388G>A (p.Glu130Lys)

Gene:
PITX1:paired like homeodomain 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5q31.1
Genomic location:
Preferred name:
NM_002653.4(PITX1):c.388G>A (p.Glu130Lys)
HGVS:
  • NC_000005.10:g.135031290C>T
  • NG_012114.1:g.7985G>A
  • NM_002653.4:c.388G>A
  • NP_002644.4:p.Glu130Lys
  • NC_000005.9:g.134366980C>T
  • P78337:p.Glu130Lys
Protein change:
E130K; GLU130LYS
Links:
UniProtKB: P78337#VAR_058113; OMIM: 602149.0001; dbSNP: rs121909109
NCBI 1000 Genomes Browser:
rs121909109
Molecular consequence:
  • NM_002653.4:c.388G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Talipes equinovarus (CCF)
Synonyms:
Clubfoot; CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY; Club feet; See all synonyms [MedGen]
Identifiers:
MedGen: C0009081; Orphanet: 199315; OMIM: 119800; Human Phenotype Ontology: HP:0001762

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000028139OMIM
no assertion criteria provided
Pathogenic
(Nov 1, 2008) 		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

Asymmetric lower-limb malformations in individuals with homeobox PITX1 gene mutation.

Gurnett CA, Alaee F, Kruse LM, Desruisseau DM, Hecht JT, Wise CA, Bowcock AM, Dobbs MB.

Am J Hum Genet. 2008 Nov;83(5):616-22. doi: 10.1016/j.ajhg.2008.10.004. Epub 2008 Oct 23.

PubMed [citation]
PMID:
18950742
PMCID:
PMC2668044

Details of each submission

From OMIM, SCV000028139.3

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

Description

In affected members of a 5-generation family segregating asymmetric right-sided predominant clubfoot (119800), Gurnett et al. (2008) identified a 388G-A transition in the PITX1 gene, resulting in a glu130-to-lys (E130K) substitution in the highly conserved homeodomain of the protein. The mutation was also present in 2 tested obligate carriers and was absent in 500 control subjects. The proband had bilateral clubfoot, bilateral foot preaxial polydactyly, and right-sided tibial hemimelia. Five other family members had clubfoot. Other than the proband, none had polydactyly or tibial hemimelia. Some family members had other lower limb malformations including patellar hypoplasia, oblique talus manifesting as pes planus, and developmental hip dysplasia.

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

Last Updated: Oct 3, 2018