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NM_005523.6(HOXA11):c.872del (p.Asn291fs) AND Radioulnar synostosis with amegakaryocytic thrombocytopenia 1

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 1, 2000
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:
RCV000016026.22

Allele description [Variation Report for NM_005523.6(HOXA11):c.872del (p.Asn291fs)]

NM_005523.6(HOXA11):c.872del (p.Asn291fs)

Gene:
HOXA11:homeobox A11 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
7p15.2
Genomic location:
Preferred name:
NM_005523.6(HOXA11):c.872del (p.Asn291fs)
HGVS:
  • NC_000007.14:g.27182867del
  • NG_012079.1:g.7351del
  • NM_005523.6:c.872delMANE SELECT
  • NP_005514.1:p.Asn291fs
  • NP_005514.1:p.Asn291fs
  • LRG_561t1:c.872del
  • LRG_561:g.7351del
  • LRG_561p1:p.Asn291fs
  • NC_000007.13:g.27222486del
  • NM_005523.5:c.872del
Note:
NCBI staff reviewed the sequence information reported in PubMed 11101832 Fig. 2 to determine the location of this allele on the current reference sequence.
Protein change:
N291fs
Links:
OMIM: 142958.0001; dbSNP: rs864321666
NCBI 1000 Genomes Browser:
rs864321666
Molecular consequence:
  • NM_005523.6:c.872del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 (RUSAT1)
Synonyms:
THROMBOCYTOPENIA, CONGENITAL, WITH RADIOULNAR SYNOSTOSIS
Identifiers:
MONDO: MONDO:0024558; MedGen: C4551975; Orphanet: 71289; OMIM: 605432

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000036293OMIM
no assertion criteria provided
Pathogenic
(Dec 1, 2000) 		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

Amegakaryocytic thrombocytopenia and radio-ulnar synostosis are associated with HOXA11 mutation.

Thompson AA, Nguyen LT.

Nat Genet. 2000 Dec;26(4):397-8. No abstract available.

PubMed [citation]
PMID:
11101832

Details of each submission

From OMIM, SCV000036293.2

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

Description

Thompson and Nguyen (2000) observed 2 families with autosomal dominant inheritance of radioulnar synostosis in association with amegakaryocytic thrombocytopenia (RUSAT1; 605432). The fathers and all affected children in both families (2 of 3 in 1 family and both children in the other) had radioulnar synostosis. Three of the 4 children with radioulnar synostosis also had symptomatic thrombocytopenia, with bruising and bleeding problems since birth. The fathers and affected children were heterozygous for a 1-bp deletion in exon 2 of the HOXA11 gene. Deletion of an adenine converted AAC (asparagine) to ACA (threonine), resulting in a premature termination codon and truncation of the remaining 22 amino acids of the HOXA11 protein.

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

Last Updated: Sep 1, 2024