AutismKB

Evidence Detail for HOXA1


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Basic Information Top
Gene Symbol:HOXA1 ( BSAS,HOX1,HOX1F,MGC45232 )
Gene Full Name: homeobox A1
Band: 7p15.3
Quick LinksEntrez ID:3198; OMIM: 142955; Uniprot ID:HXA1_HUMAN; ENSEMBL ID: ENSG00000105991
Sequences Top
>HOXA1|3198|nucleotide
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>HOXA1|3198|protein
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Evidence Statistic Top

Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
Evidences Syndromic Gene GWAS Expression CNV Linkage Low Scale Association Other Studies Total
Score (No. of Studies) Yes 0 (0) 0 (0) 0 (0) 0 (0) 2 (14) 2 (3) 20 (24)
Syndromic Autism Gene Top
Abbreviations: AD, autosomal dominant; AR, autosomal recessive; ASD, autism spectrum disorder; ID, intellectual disability; XL, X linked.
InheritanceAR
OMIMBosley-Salih-Alorainy syndrome (601536)
DescriptionHOXA1 syndrome, Bosley-Salih-Alorainy variant (horizontal gaze abnormalities, deafness, facial weakness, hypoventilation, cardiovascular malformations, ID and ASD); 2/9 patients meet criteria for autism
Reference(s)17875913;
LevelLevel 3: The gene has been reported in more than one family with ASD/autistic features, but the disorder hasn't been a generally acknowledged ASD related disorder.
Low Scale Association Studies (by Ethnic Group) Top
Family Based Association Studies: 7
Case Control Based Association Studies: 7
Reference Population #SNPs/ #VNTRs ASD Cases Normal Controls Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ #Subjects
(% Women)
Age
(range)
CAUCASIAN
Talebizadeh, 2002_1 USA 1 (detail) 35
(22.86%)
ASD 9.5
(1.7-37.3)
66 35
(22.86%)
-
-
Romano, 2003_1 Italy 1 (detail) 85
(-)
AD -
-
- 132
(-)
-
-
Collins, 2003_1 USA 1 (detail) 133
(23.31%)
ASD -
(5-21)
- 132
(46.97%)
-
-
Conciatori, 2004_1 Italy 1 (detail) 127
(11.81%)
ASD 7.36±4.78
(3-33)
- 174
(47.70%)
52.6±19.4
(17-92)
Muscarella, 2007_1 Italy 1 (detail) 191
(-)
--ASD 7.2±2.6
(3-16)
- 142
(-)
9.4±3.3
(3-16)
Muscarella, 2007_2 Italy 1 (detail) 191
(-)
--ASD 7.2±2.6
(3-16)
- 183
(-)
35.2±8.8
(18-51)
AFRICAN
Collins, 2003_2 USA 1 (detail) 65
(15.38%)
ASD -
(5-21)
- 127
(45.67%)
-
-
Genome-Wide Association Studies(By Ethnic Group) Top
Other Low Scale Gene Studies Top
Reference Orangnism Tissue ADI-R ADOS Diagnosis Evidence Level Result
Ingram, 2000_1 human bloodASD genetics
  • Subjects: 57
  • Normal Controls: -
  • Methods: PCR-RFLP
  • Evidence Details: In the ASD families, there was a significant deviation from the HOXA1 genotype ratios expected from Hardy-Weinberg proportions (P = 0.005).
Devlin, 2002_1 human bloodASD genetics
  • Subjects: 231 families
  • Normal Controls: -
  • Methods: PCR-RFLP
  • Evidence Details: Our data from our sample argue against a major role for HOXA1 (His)73(Arg) in liability to autism.
Carayol, 2011_1 human bloodASD genetic score model
  • Subjects: 844(664 males and 179 females)
  • Normal Controls: -
  • Methods: TaqMan allele discrimination assays
  • Evidence Details: Our results demonstrate that individual susceptibility associated SNPs for autism may have important differential sex effects.
Large Scale Expression Studies Top
CNV Studies Top
Linkage Studies Top

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Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 616
  • Genes: 3,075
  • SNPs/VNTRs: 3,386
  • CNVs: 4,617
  • Linkage Regions: 158
  • Last Update: 05/25/2012
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