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
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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) 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.
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
(% Women)
ADI-R ADOS Diagnosis Age
Hussman, 2011_1 Discovery 1 (detail) 597 -
Case Control Based Association Studies: 0
Reference Stage #SNPs/ #VNTRs ASD Cases Normal Controls Result
(% Women)
ADI-R ADOS Diagnosis Age
IQ #Subjects
(% Women)
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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