NM_000522.4(HOXA13):c.1107G>A (p.Trp369Ter) AND Hand foot uterus syndrome

Clinical significance:Pathogenic (Last evaluated: Feb 1, 1997)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000016018.25

Allele description

NM_000522.4(HOXA13):c.1107G>A (p.Trp369Ter)

Gene:
HOXA13:homeobox A13 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7p15.2
Genomic location:
Preferred name:
NM_000522.4(HOXA13):c.1107G>A (p.Trp369Ter)
HGVS:
  • NC_000007.14:g.27198258C>T
  • NG_008181.1:g.6849G>A
  • NM_000522.4:c.1107G>A
  • NP_000513.2:p.Trp369Ter
  • NC_000007.13:g.27237877C>T
Protein change:
W369*; TRP369TER
Links:
OMIM: 142959.0001; dbSNP: rs104894019
NCBI 1000 Genomes Browser:
rs104894019
Molecular consequence:
  • NM_000522.4:c.1107G>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Hand foot uterus syndrome (HFGS)
Identifiers:
MedGen: C1841679; OMIM: 140000

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000036285OMIMno assertion criteria providedPathogenic
(Feb 1, 1997)
germlineliterature only

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

Summary from all submissions

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

Citations

PubMed

Mutation of HOXA13 in hand-foot-genital syndrome.

Mortlock DP, Innis JW.

Nat Genet. 1997 Feb;15(2):179-80.

PubMed [citation]
PMID:
9020844

The hand-food-uterus syndrome: a new hereditary disorder characterized by hand and foot dysplasia, dermatoglyphic abnormalities, and partial duplication of the female genital tract.

Stern AM, Gall JC Jr, Perry BL, Stimson CW, Weitkamp LR, Poznanski AK.

J Pediatr. 1970 Jul;77(1):109-16. No abstract available.

PubMed [citation]
PMID:
5450271

Details of each submission

From OMIM, SCV000036285.1

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

Description

Mortlock and Innis (1997) found that patients with the hand-foot-genital syndrome (140000) in the family reported by Stern et al. (1970) had an A-to-G transition in a highly conserved tryptophan codon in the HOXA13 homeodomain, which, in addition to causing a trp369-to-ter substitution (TGG to TGA), also destroyed a NlaIV restriction site. The nonsense mutation was predicted to produce a truncated protein missing 20 C-terminal amino acids based on homology to other homeodomains whose 3-dimensional structures had been determined. This portion of the normal homeodomain folds into the last of the 3 alpha-helices. This helix is critical for DNA binding. The authors noted that the tryptophan that was mutated in this family is the only amino acid which is invariant in all known homeodomain proteins.

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

Last Updated: Jul 21, 2018

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