AutismKB

Evidence Detail for DLX5


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Basic Information Top
Gene Symbol:DLX5 ( - )
Gene Full Name: distal-less homeobox 5
Band: 7q22
Quick LinksEntrez ID:1749; OMIM: 600028; Uniprot ID:DLX5_HUMAN; ENSEMBL ID: ENSG00000105880
Sequences Top
>DLX5|1749|nucleotide
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>DLX5|1749|protein
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Evidence Statistic Top

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Evidences Syndromic Gene GWAS Expression CNV Linkage Low Scale Association Other Studies Total
Score (No. of Studies) No 0 (0) 0 (0) 0 (0) 0 (0) 2 (2) 0 (3) 6 (5)
Syndromic Autism Gene Top
Low Scale Association Studies (by Ethnic Group) Top
Family Based Association Studies: 2
Case Control Based Association Studies: 0
Reference Population #SNPs/ #VNTRs ASD Cases Normal Controls Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ #Subjects
(% Women)
Age
(range)
No Evidence.
Genome-Wide Association Studies(By Ethnic Group) Top
Other Low Scale Gene Studies Top
Reference Orangnism Tissue ADI-R ADOS Diagnosis Evidence Level Result
Hamilton, 2005_1 human bloodASD genetics: mutation screen
  • Subjects: 161
  • Normal Controls: 378
  • Methods: mutation screen
  • Evidence Details: Sequencing of exons, exon/intron boundaries and known enhancers of DLX1, 2, 5 and 6 identified several nonsynonymous variants in DLX2 and DLX5 and a variant in a DLX5/6 intragenic enhancer. The nonsynonymous variants were detected in 4 of 95 families from which samples were sequenced. Two of these four SNPs were not observed in 378 undiagnosed samples from North American populations, while the remaining 2 were seen in one sample each.
Nakashima, 2009_1 human lymphoblastsASD RNA expression
  • Subjects: 10
  • Normal Controls: 6
  • Methods: real-time PCR
  • Evidence Details: The expression level of DLX5 was not different between ASD and controls but was higher in four ASD patients compared to controls. Clinical features of these four patients were variable. DLX5 expression was biallelic in two ASD patients and two controls, indicating that DLX5 was not imprinted.
Nakashima, 2009_2 human lymphoblastsASD genetics: mutation screen
  • Subjects: 64
  • Normal Controls: -
  • Methods: denaturing high-performance liquid chromatography (DHPLC) analysis, direct sequence
  • Evidence Details: There was no mutation in DLX5 in ASD.
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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