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NM_000522.5(HOXA13):c.355_406dup (p.Ser136fs) AND Hand-foot-genital syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 15, 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:
RCV000016025.23

Allele description [Variation Report for NM_000522.5(HOXA13):c.355_406dup (p.Ser136fs)]

NM_000522.5(HOXA13):c.355_406dup (p.Ser136fs)

Genes:
LOC107126288:NUP98-HOXA13 recombination region [Gene]
HOXA13:homeobox A13 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
7p15.2
Genomic location:
Preferred name:
NM_000522.5(HOXA13):c.355_406dup (p.Ser136fs)
HGVS:
  • NC_000007.14:g.27199672_27199723dup
  • NG_008181.2:g.5384_5435dup
  • NG_046623.1:g.1330_1381dup
  • NM_000522.5:c.355_406dupMANE SELECT
  • NP_000513.2:p.Ser136fs
  • LRG_1349t1:c.355_406dup
  • LRG_1349:g.5384_5435dup
  • LRG_1349p1:p.Ser136fs
  • NC_000007.13:g.27239291_27239342dup
  • NG_008181.1:g.5384_5435dup
Protein change:
S136fs
Links:
OMIM: 142959.0008; dbSNP: rs387906542
NCBI 1000 Genomes Browser:
rs387906542
Molecular consequence:
  • NM_000522.5:c.355_406dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Hand-foot-genital syndrome (HFGS)
Synonyms:
Hand foot uterus syndrome; HFU syndrome; HFG syndrome
Identifiers:
MONDO: MONDO:0007698; MedGen: C1841679; OMIM: 140000

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000036292OMIM
no assertion criteria provided
Pathogenic
(Dec 15, 2007) 		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

Molecular characterization of HOXA13 polyalanine expansion proteins in hand-foot-genital syndrome.

Utsch B, McCabe CD, Galbraith K, Gonzalez R, Born M, Dötsch J, Ludwig M, Reutter H, Innis JW.

Am J Med Genet A. 2007 Dec 15;143A(24):3161-8.

PubMed [citation]
PMID:
17935235

Details of each submission

From OMIM, SCV000036292.3

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

Description

In a father and daughter with hand-foot-genital syndrome (HFG; 140000), Utsch et al. (2007) identified a heterozygous 42-bp duplication in the HOXA13 gene, resulting in the addition of 14 alanine residues into polyalanine tract III, which usually has 18 alanine residues. Transient cellular expression studies showed that the expanded protein formed cytoplasmic aggregates that sequestered both wildtype HOXA13 and wildtype HOXD13 (142989). The daughter had additional clinical features, including tethered spinal cord with neurogenic bladder and unilateral talipes equinovarus.

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

Last Updated: Feb 7, 2023