RGD Reference Report - The clinical spectrum of homozygous HOXA1 mutations. - Rat Genome Database

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The clinical spectrum of homozygous HOXA1 mutations.

Authors: Bosley, TM  Alorainy, IA  Salih, MA  Aldhalaan, HM  Abu-Amero, KK  Oystreck, DT  Tischfield, MA  Engle, EC  Erickson, RP 
Citation: Bosley TM, etal., Am J Med Genet A. 2008 May 15;146A(10):1235-40. doi: 10.1002/ajmg.a.32262.
RGD ID: 11553818
Pubmed: PMID:18412118   (View Abstract at PubMed)
PMCID: PMC3517166   (View Article at PubMed Central)
DOI: DOI:10.1002/ajmg.a.32262   (Journal Full-text)

We describe nine previously unreported individuals from six families who have homozygous mutations of HOXA1 and either the Bosley-Salih-Alorainy syndrome (BSAS) or the Athabascan brainstem dysgenesis syndrome (ABDS). Congenital heart disease was present in four BSAS patients, two of whom had neither deafness nor horizontal gaze restriction, thus raising the possibility that cardiovascular malformations might be a clinically isolated, or relatively isolated, manifestation of homozygous HOXA1 mutations. Two ABDS probands had relatively mild mental retardation. These individuals blur the clinical distinctions between the BSAS and ABDS HOXA1 variants and broaden the phenotype and genotype of the homozygous HOXA1 mutation clinical spectrum.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
HOXA1HumanAthabaskan brainstem dysgenesis syndrome  IAGP DNA:mutations:cds:185delG more ...RGD 
Hoxa1MouseAthabaskan brainstem dysgenesis syndrome  ISOHOXA1 (Homo sapiens)DNA:mutations:cds:185delG more ...RGD 
Hoxa1RatAthabaskan brainstem dysgenesis syndrome  ISOHOXA1 (Homo sapiens)DNA:mutations:cds:185delG more ...RGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
HOXA1HumanAbnormality of eye movement  IAGP DNA:mutations:cds:185delG more ...RGD 
HOXA1HumanHearing impairment  IAGP DNA:mutations:cds:185delG more ...RGD 
Objects Annotated

Genes (Rattus norvegicus)
Hoxa1  (homeobox A1)

Genes (Mus musculus)
Hoxa1  (homeobox A1)

Genes (Homo sapiens)
HOXA1  (homeobox A1)


Additional Information