AutismKB

Evidence Detail for PTEN


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Basic Information Top
Gene Symbol:PTEN ( 10q23del,BZS,DEC,GLM2,MGC11227,MHAM,MMAC1,PTEN1,TEP1 )
Gene Full Name: phosphatase and tensin homolog
Band: 10q23.3
Quick LinksEntrez ID:5728; OMIM: 601728; Uniprot ID:PTEN_HUMAN; ENSEMBL ID: ENSG00000171862
Sequences Top
>PTEN|5728|nucleotide
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>PTEN|5728|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 (1) 0 (0) 0 (0) 1 (1) 0 (0) 3 (4) 22 (6)
Syndromic Autism Gene Top
Abbreviations: AD, autosomal dominant; AR, autosomal recessive; ASD, autism spectrum disorder; ID, intellectual disability; XL, X linked.
InheritanceAD
OMIMPTEN hamartoma-tumor syndrome (601728)
DescriptionPTEN hamartoma-tumor syndrome (including Bannayan-Riley-Ruvalcaba syndrome and Cowden syndrome); ID and ASD with macrocephaly. The frequency of PTEN mutations in children with ASD and macrocephaly is unknown; in one study, 15% (4/26) of children with PTEN mutations had ASD
Reference(s)15805158; 17427195; 12920084; 11496368; 12567405; 19321504; 20533527; 18759867; 20814261; 17526801; 19265751;
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
Genome-Wide Association Studies(By Ethnic Group) Top
Family Based Association Studies: 1
Reference Stage #SNPs/ #VNTRs #Families Affecteds Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ
(range)
CAUCASIAN
Hussman, 2011_1 Discovery 1 (detail) 597 -
(-)
ASD -
-
-
-
Case Control Based Association Studies: 0
Reference Stage #SNPs/ #VNTRs ASD Cases Normal Controls Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ #Subjects
(% Women)
Age
(range)
No Evidence.
Other Low Scale Gene Studies Top
Reference Orangnism Tissue ADI-R ADOS Diagnosis Evidence Level Result
Butler, 2005_1 human blood--ASD genetics: mutation screen
  • Subjects: 18(13 males and five females; ages 3.1-18.4 years)
  • Normal Controls: -
  • Methods: mutation screen
  • Evidence Details: The three probands who had the larger head circumference measurements amongst all our study subjects had previously undescribed PTEN mutations: H93R (exon 4), D252G (exon 7), and F241S (exon 7).
Buxbaum, 2007_1 human blood--ASD genetics: mutation screen
  • Subjects: 88
  • Normal Controls: -
  • Methods: mutation screen, multiplex ligation-dependent probe amplification (MLPA)
  • Evidence Details: We identified a de novo missense mutation (D326N) in a highly conserved amino acid in a 5-year-old boy with autism, mental retardation, language delay, extreme macrocephaly (+9.6 SD) and polydactyly of both feet. Our findings suggest that PTEN mutations are a relatively infrequent cause of ASDs with macrocephaly
Herman, 2007_1 human ---AD case report
  • Subjects: 2
  • Normal Controls: -
  • Methods: case report
  • Evidence Details: Here, we report the presence of PTEN mutations in two additional unrelated children with macrocephaly and autism.
Varga, 2009_1 human germlineASD genetics: mutation screen
  • Subjects: 60
  • Normal Controls: -
  • Methods: PCR
  • Evidence Details: Eleven mutations were identified: five in patients with ASDs, resulting in a prevalence of 8.3% in the clinical populations. All individuals with a PTEN mutation had significant macrocephaly (>2.0 SD). These data illustrate that PTEN gene sequencing has a high diagnostic yield when performed in a selected population of individuals with ASDs or DD/MR and macrocephaly.
Conti, 2011_1 human bloodAutism case report
  • Subjects: 1
  • Normal Controls: -
  • Methods: Denaturing high-performance liquid chromatography and multiple ligation-dependent probe amplification
  • Evidence Details: "An exon 2 deletion on the gene of PTEN was detected. This patient is the first case described in the literature to present simultaneously Cowden syndrome, autisitic disorder, and epilepsy"
O'Roak, 2012_1 human bloodASD Mutation screen
  • Subjects: 209 simplex pedigrees
  • Normal Controls: -
  • Methods: direct sequencing
  • Evidence Details: De novo functional mutation was found in this gene locus
Kelleher lii, 2012_1 human bloodASD Mutation screen
  • Subjects: 290
  • Normal Controls: 300
  • Methods: direct sequencing
  • Evidence Details: 0 functional rare mutation was found in ASD case, 0 in control
Large Scale Expression Studies Top
CNV Studies Top
Linkage Studies Top
Linkage Name Band Chr Marker LOD NPL P_Value Reference
AutLD0000090 10q23.31 10 D10S2327 - 1.48 - Buxbaum, 2004

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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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