NM_005522.5(HOXA1):c.175dup (p.Val59fs) AND Bosley-Salih-Alorainy syndrome

Clinical significance:Pathogenic (Last evaluated: May 15, 2008)

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:
RCV000016027.22

Allele description [Variation Report for NM_005522.5(HOXA1):c.175dup (p.Val59fs)]

NM_005522.5(HOXA1):c.175dup (p.Val59fs)

Gene:
HOXA1:homeobox A1 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
7p15.2
Genomic location:
Preferred name:
NM_005522.5(HOXA1):c.175dup (p.Val59fs)
HGVS:
  • NC_000007.14:g.27095743dup
  • NG_011813.1:g.5269dup
  • NG_033087.1:g.4650dup
  • NM_005522.4:c.175dup
  • NM_005522.5:c.175dupMANE SELECT
  • NM_153620.3:c.175dup
  • NP_005513.1:p.Val59fs
  • NP_005513.2:p.Val59fs
  • NP_705873.3:p.Val59fs
  • NC_000007.13:g.27135362dup
  • NM_005522.4:c.175dupG
Note:
ClinGen staff contributed the HGVS expression for this variant.
Protein change:
V59fs
Links:
OMIM: 142955.0001; dbSNP: rs769152039
NCBI 1000 Genomes Browser:
rs769152039
Molecular consequence:
  • NM_005522.4:c.175dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_005522.5:c.175dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_153620.3:c.175dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Bosley-Salih-Alorainy syndrome (BSAS)
Identifiers:
MONDO: MONDO:0019075; MedGen: C1832216

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000036294OMIMno assertion criteria providedPathogenic
(May 15, 2008)
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

Homozygous HOXA1 mutations disrupt human brainstem, inner ear, cardiovascular and cognitive development.

Tischfield MA, Bosley TM, Salih MA, Alorainy IA, Sener EC, Nester MJ, Oystreck DT, Chan WM, Andrews C, Erickson RP, Engle EC.

Nat Genet. 2005 Oct;37(10):1035-7. Epub 2005 Sep 11.

PubMed [citation]
PMID:
16155570

The clinical spectrum of homozygous HOXA1 mutations.

Bosley TM, Alorainy IA, Salih MA, Aldhalaan HM, Abu-Amero KK, Oystreck DT, Tischfield MA, Engle EC, Erickson RP.

Am J Med Genet A. 2008 May 15;146A(10):1235-40. doi: 10.1002/ajmg.a.32262.

PubMed [citation]
PMID:
18412118
PMCID:
PMC3517166

Details of each submission

From OMIM, SCV000036294.2

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

Description

In affected members of 3 consanguineous Saudi Arabian families with Bosley-Salih-Alorainy syndrome and in a 4-year-old Saudi Arabian boy, born of consanguineous parents, with Duane anomaly and hypoplastic left carotid artery (BSAS; see 601536), Tischfield et al. (2005) identified homozygosity for a guanine insertion, 175_176insG. The mutation segregated with the disorder in the families; haplotype analysis indicated a founder effect. The mutation was predicted to result in a frameshift and premature termination, although functional studies of the variant and studies of patient cells were not performed.

Bosley et al. (2008) identified the 175_176insG mutation in affected members of 2 additional consanguineous Saudi Arabian families with BSAS. The mutation was predicted to result in a truncated protein and absence of HOXA1 activity. Five patients had conotruncal or septal heart defects.

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

Last Updated: Nov 27, 2021

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