Increasing knowledge of PTEN germline mutations: Two additional patients with autism and macrocephaly.
paper
Cited
Public
Unavailable
- Authors
- Herman, Gail E; Butter, Eric; Enrile, Benedicta; Pastore, Matthew; Prior, Thomas W; Sommer, Annemarie
- Year
- 2007
- Journal
- American journal of medical genetics. Part A
- PMID
- 17286265
- DOI
- 10.1002/ajmg.a.31619
Recently, Butler et al. [2005; J Med Genet 42:318-321] reported the presence of heterozygous germline mutations in the PTEN tumor suppressor gene in three children with autism and macrocephaly. Here, we report the presence of PTEN mutations in two additional unrelated children with macrocephaly and autism. Our findings extend those of Butler et al. and suggest that PTEN gene sequencing should be included in the genetic evaluation of this subset of autistic individuals.
No figures extracted from this document.
No chunks β full text not yet ingested.
No entities extracted from this document yet.
No uploaded files.
Not in any collection.
No citations found.
In this knowledge base
| Title | Year | PMID |
|---|---|---|
| A genome-wide scan for common alleles affecting risk for autism. | 2010 | 20663923 |
External
| Title | Authors | Journal | Year | Link |
|---|---|---|---|---|
| Autism Spectrum Disorder: The Cerebellum, Genes, and Pathways. | D'Mello SR | β | 2025 | β |
| Developmental trajectory and sex differences in auditory processing in a PTEN-deletion model of autism spectrum disorders. | Croom K et al. | β | 2024 | β |
| Exploring the neurological features of individuals with germline PTEN variants: A multicenter study. | Dhawan A et al. | β | 2024 | β |
| Correlation of mutated gene and signalling pathways in ASD. | Apte M et al. | β | 2023 | β |
| Genetic diagnostic yields of 354 Chinese ASD children with rare mutations by a pipeline of genomic tests. | Zhang Y et al. | β | 2023 | β |
| Oxidative stress and neuroimmune proteins in a mouse model of autism. | Uddin MN et al. | β | 2023 | β |
| Toward a better understanding of PHTS heterogeneity: commentary on 'Cell-type specific deficits in PTEN-mutant cortical organoids converge on abnormal circuit activity'. | Tan Z et al. | β | 2023 | β |
| A randomized double-blind controlled trial of everolimus in individuals with <i>PTEN</i> mutations: Study design and statistical considerations. | Hardan AY et al. | β | 2021 | β |
| A systematic review of brain MRI findings in monogenic disorders strongly associated with autism spectrum disorder. | Frewer V et al. | β | 2021 | β |
| Cowden syndrome: new clinical features in a large family; joint hyperextensibility, dental abnormalities and gingival enlargement. | Sabir A et al. | β | 2021 | β |
| Cross-level analysis of molecular and neurobehavioral function in a prospective series of patients with germline heterozygous PTEN mutations with and without autism. | Frazier TW et al. | β | 2021 | β |
| Prevalence and clinical/molecular characteristics of PTEN mutations in Turkish children with autism spectrum disorders and macrocephaly. | Kaymakcalan H et al. | β | 2021 | β |
| Proximal variants in CCND2 associated with microcephaly, short stature, and developmental delay: A case series and review of inverse brain growth phenotypes. | Pirozzi F et al. | β | 2021 | β |
| PTEN mutations in autism spectrum disorder and congenital hydrocephalus: developmental pleiotropy and therapeutic targets. | DeSpenza T et al. | β | 2021 | β |
| Connecting Genotype with Behavioral Phenotype in Mouse Models of Autism Associated with <i>PTEN</i> Mutations. | Clipperton-Allen AE et al. | β | 2020 | β |
| Dysregulation of translational control signaling in autism spectrum disorders. | Hooshmandi M et al. | β | 2020 | β |
| Infantile macrocephaly and multiple subcutaneous lipomas diagnosed with <i>PTEN</i> hamartoma tumor syndrome: A case report. | Yotsumoto Y et al. | β | 2020 | β |
| Neural Mechanisms Underlying Repetitive Behaviors in Rodent Models of Autism Spectrum Disorders. | Gandhi T et al. | β | 2020 | β |
| PTEN hamartoma tumour syndrome: what happens when there is no PTEN germline mutation? | Yehia L et al. | β | 2020 | β |
| The Clinical Spectrum of <i>PTEN</i> Mutations. | Yehia L et al. | β | 2020 | β |
| The Role of PTEN in Neurodevelopment. | Skelton PD et al. | β | 2020 | β |
| A novel missense <i>PTEN</i> mutation identified in a patient with macrocephaly and developmental delay. | Ueno Y et al. | β | 2019 | β |
| Autism Spectrum Disorder Associated with Germline Heterozygous <i>PTEN</i> Mutations. | Frazier TW | β | 2019 | β |
| Diagnostic Utility of Next-Generation Sequencing for Disorders of Somatic Mosaicism: A Five-Year Cumulative Cohort. | McNulty SN et al. | β | 2019 | β |
| Distinct Alterations in Tricarboxylic Acid Cycle Metabolites Associate with Cancer and Autism Phenotypes in Cowden Syndrome and Bannayan-Riley-Ruvalcaba Syndrome. | Yehia L et al. | β | 2019 | β |
| Genetics and epigenetics of autism spectrum disorder-current evidence in the field. | WiΕniowiecka-Kowalnik B et al. | β | 2019 | β |
| <i>PTEN</i> Hamartoma Tumor Syndrome: A Clinical Overview. | Pilarski R | β | 2019 | β |
| Neuroligin 3 Regulates Dendritic Outgrowth by Modulating Akt/mTOR Signaling. | Xu J et al. | β | 2019 | β |
| PTEN-opathies: from biological insights to evidence-based precision medicine. | Yehia L et al. | β | 2019 | β |
| 65 YEARS OF THE DOUBLE HELIX: One gene, many endocrine and metabolic syndromes: <i>PTEN</i>-opathies and precision medicine. | Yehia L et al. | β | 2018 | β |
| A family with PTEN mutations with malignancy and an unusually high number of offspring with autism spectrum disorder: a case report. | Gruhl SL et al. | β | 2018 | β |
| Distinctive facies, macrocephaly, and developmental delay are signs of a PTEN mutation in childhood. | Kato K et al. | β | 2018 | β |
| From microcephaly to megalencephaly: determinants of brain size. | Pirozzi F et al. | β | 2018 | β |
| Genetic Diagnostic Evaluation of Trio-Based Whole Exome Sequencing Among Children With Diagnosed or Suspected Autism Spectrum Disorder. | Du X et al. | β | 2018 | β |
| Multiple Critical Periods for Rapamycin Treatment to Correct Structural Defects in <i>Tsc-1</i>-Suppressed Brain. | Cox RL et al. | β | 2018 | β |
| Nuclear Excluded Autism-Associated Phosphatase and Tensin Homolog Mutations Dysregulate Neuronal Growth. | Fricano-Kugler CJ et al. | β | 2018 | β |
| PTEN/PTENP1: 'Regulating the regulator of RTK-dependent PI3K/Akt signalling', new targets for cancer therapy. | Haddadi N et al. | β | 2018 | β |
| A retrospective chart review of the features of PTEN hamartoma tumour syndrome in children. | Hansen-Kiss E et al. | β | 2017 | β |
| Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes. | Loviglio MN et al. | β | 2017 | β |
| Reframing autism as a behavioral syndrome and not a specific mental disorder: Implications of genetic and phenotypic heterogeneity. | Tordjman S et al. | β | 2017 | β |
| Role of Genetics in the Etiology of Autistic Spectrum Disorder: Towards a Hierarchical Diagnostic Strategy. | Robert C et al. | β | 2017 | β |
| The Immune Signaling Adaptor LAT Contributes to the Neuroanatomical Phenotype of 16p11.2 BP2-BP3 CNVs. | Loviglio MN et al. | β | 2017 | β |
| A Retroviral CRISPR-Cas9 System for Cellular Autism-Associated Phenotype Discovery in Developing Neurons. | Williams MR et al. | β | 2016 | β |
| Behavioral phenotypes of genetic mouse models of autism. | Kazdoba TM et al. | β | 2016 | β |
| From molecules to neural morphology: understanding neuroinflammation in autism spectrum condition. | Young AM et al. | β | 2016 | β |
| Increased Surface Area, but not Cortical Thickness, in a Subset of Young Boys With Autism Spectrum Disorder. | Ohta H et al. | β | 2016 | β |
| MECP2 Is a Frequently Amplified Oncogene with a Novel Epigenetic Mechanism That Mimics the Role of Activated RAS in Malignancy. | Neupane M et al. | β | 2016 | β |
| A systematic screening to identify de novo mutations causing sporadic early-onset Parkinson's disease. | Kun-Rodrigues C et al. | β | 2015 | β |
| Autism spectrum disorder and epilepsy: Disorders with a shared biology. | Lee BH et al. | β | 2015 | β |
| Balancing Proliferation and Connectivity in PTEN-associated Autism Spectrum Disorder. | Tilot AK et al. | β | 2015 | β |
| Clinical and molecular heterogeneity in brazilian patients with sotos syndrome. | Vieira GH et al. | β | 2015 | β |
| Dendritic spine dysgenesis in autism related disorders. | Phillips M et al. | β | 2015 | β |
| Hereditary breast cancer syndromes and genetic testing. | Rich TA et al. | β | 2015 | β |
| PTEN: Multiple Functions in Human Malignant Tumors. | Milella M et al. | β | 2015 | β |
| Social Behavioral Deficits Coincide with the Onset of Seizure Susceptibility in Mice Lacking Serotonin Receptor 2c. | SΓ©journΓ© J et al. | β | 2015 | β |
| Autism-epilepsy phenotype with macrocephaly suggests PTEN, but not GLIALCAM, genetic screening. | Marchese M et al. | β | 2014 | β |
| Genetic predisposition to colorectal cancer: where we stand and future perspectives. | Valle L | β | 2014 | β |
| Head circumference alone at birth, is it practical? | Kim YH | β | 2014 | β |
| Mechanisms regulating neuronal excitability and seizure development following mTOR pathway hyperactivation. | Lasarge CL et al. | β | 2014 | β |
| Neurobiology of autism gene products: towards pathogenesis and drug targets. | Kleijer KT et al. | β | 2014 | β |
| PTEN: A master regulator of neuronal structure, function, and plasticity. | Garcia-Junco-Clemente P et al. | β | 2014 | β |
| Pten haploinsufficient mice show broad brain overgrowth but selective impairments in autism-relevant behavioral tests. | Clipperton-Allen AE et al. | β | 2014 | β |
| PTEN knockdown alters dendritic spine/protrusion morphology, not density. | Haws ME et al. | β | 2014 | β |
| Autism genetics. | Persico AM et al. | β | 2013 | β |
| Autism spectrum disorders: the quest for genetic syndromes. | Zafeiriou DI et al. | β | 2013 | β |
| Cowden syndrome and the PTEN hamartoma tumor syndrome: systematic review and revised diagnostic criteria. | Pilarski R et al. | β | 2013 | β |
| DSM-5 and autism spectrum disorders (ASDs): an opportunity for identifying ASD subtypes. | Grzadzinski R et al. | β | 2013 | β |
| Macrocephaly as a clinical indicator of genetic subtypes in autism. | Klein S et al. | β | 2013 | β |
| Novel PTEN germline mutation in a family with mild phenotype: difficulties in genetic counseling. | Busa T et al. | β | 2013 | β |
| Overexpression of calcium-activated potassium channels underlies cortical dysfunction in a model of PTEN-associated autism. | Garcia-Junco-Clemente P et al. | β | 2013 | β |
| PtdIns(4,5)P2-mediated cell signaling: emerging principles and PTEN as a paradigm for regulatory mechanism. | Gericke A et al. | β | 2013 | β |
| Toxicity of the flame-retardant BDE-49 on brain mitochondria and neuronal progenitor striatal cells enhanced by a PTEN-deficient background. | Napoli E et al. | β | 2013 | β |
| Autism spectrum disorders: from immunity to behavior. | Careaga M et al. | β | 2012 | β |
| Elevated transcription factor specificity protein 1 in autistic brains alters the expression of autism candidate genes. | Thanseem I et al. | β | 2012 | β |
| Membrane association of the PTEN tumor suppressor: molecular details of the protein-membrane complex from SPR binding studies and neutron reflection. | Shenoy S et al. | β | 2012 | β |
| Mitochondrial dysfunction in Pten haplo-insufficient mice with social deficits and repetitive behavior: interplay between Pten and p53. | Napoli E et al. | β | 2012 | β |
| Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. | O'Roak BJ et al. | β | 2012 | β |
| Phosphatase and tensin homolog (PTEN) gene mutations and autism: literature review and a case report of a patient with Cowden syndrome, autistic disorder, and epilepsy. | Conti S et al. | β | 2012 | β |
| Phosphatase and tensin homologue (PTEN) regulates synaptic plasticity independently of its effect on neuronal morphology and migration. | Sperow M et al. | β | 2012 | β |
| PTEN signaling in autism spectrum disorders. | Zhou J et al. | β | 2012 | β |
| Trichilemmomas show loss of PTEN in Cowden syndrome but only rarely in sporadic tumors. | Al-Zaid T et al. | β | 2012 | β |
| Altered T cell responses in children with autism. | Ashwood P et al. | β | 2011 | β |
| Autism and cancer risk. | Crespi B | β | 2011 | β |
| Autism in monogenic disorders. | Kotulska K et al. | β | 2011 | β |
| Etiological heterogeneity in autism spectrum disorders: more than 100 genetic and genomic disorders and still counting. | Betancur C | β | 2011 | β |
| Genetics in autism diagnosis: adding molecular subtypes to neurobehavioral diagnoses. | Johnson HM et al. | β | 2011 | β |
| Pten knockdown in vivo increases excitatory drive onto dentate granule cells. | Luikart BW et al. | β | 2011 | β |
| A genome-wide scan for common alleles affecting risk for autism. | Anney R et al. | β | 2010 | β |
| A mutant form of PTEN linked to autism. | Redfern RE et al. | β | 2010 | β |
| Autism spectrum disorders and epigenetics. | Grafodatskaya D et al. | β | 2010 | β |
| Confirmation study of PTEN mutations among individuals with autism or developmental delays/mental retardation and macrocephaly. | McBride KL et al. | β | 2010 | β |
| Elevated phosphatidylinositol 3,4,5-trisphosphate in glia triggers cell-autonomous membrane wrapping and myelination. | Goebbels S et al. | β | 2010 | β |
| Genetic causes of syndromic and non-syndromic autism. | Caglayan AO | β | 2010 | β |
| Genetics of autistic disorders: review and clinical implications. | Freitag CM et al. | β | 2010 | β |
| Immune dysfunction in autism: a pathway to treatment. | Careaga M et al. | β | 2010 | β |
| Mendelian genetics of rare--and not so rare--cancers. | Eng C | β | 2010 | β |
| mTOR signaling: at the crossroads of plasticity, memory and disease. | Hoeffer CA et al. | β | 2010 | β |
| The prodrome of autism: early behavioral and biological signs, regression, peri- and post-natal development and genetics. | Yirmiya N et al. | β | 2010 | β |
| Autistic phenotypes and genetic testing: state-of-the-art for the clinical geneticist. | Lintas C et al. | β | 2009 | β |
| Cowden syndrome: a critical review of the clinical literature. | Pilarski R | β | 2009 | β |
| Haploinsufficiency for Pten and Serotonin transporter cooperatively influences brain size and social behavior. | Page DT et al. | β | 2009 | β |
| Medical conditions in autism spectrum disorders. | Bolton PF | β | 2009 | β |
| Pharmacological inhibition of mTORC1 suppresses anatomical, cellular, and behavioral abnormalities in neural-specific Pten knock-out mice. | Zhou J et al. | β | 2009 | β |
| Phosphatase and tensin homologue deleted on chromosome 10: extending its PTENtacles. | Stiles BL | β | 2009 | β |
| Recent advances in the pathogenesis of syndromic autisms. | Benvenuto A et al. | β | 2009 | β |
| Syndromic autism: causes and pathogenetic pathways. | Benvenuto A et al. | β | 2009 | β |
| A review of recent reports on autism: 1000 studies published in 2007. | Hughes JR | β | 2008 | β |
| Current developments in the genetics of autism: from phenome to genome. | Losh M et al. | β | 2008 | β |
| Genetic disorders associated with macrocephaly. | Williams CA et al. | β | 2008 | β |
| Genetic evidence implicating multiple genes in the MET receptor tyrosine kinase pathway in autism spectrum disorder. | Campbell DB et al. | β | 2008 | β |
| Pharmacology and genetics of autism: implications for diagnosis and treatment. | Brkanac Z et al. | β | 2008 | β |
| Autism: the quest for the genes. | Sykes NH et al. | β | 2007 | β |
| Genetic testing in autism: how much is enough? | Herman GE et al. | β | 2007 | β |
| Mutation analysis of the NSD1 gene in patients with autism spectrum disorders and macrocephaly. | Buxbaum JD et al. | β | 2007 | β |
| The neurobiology of autism. | Pardo CA et al. | β | 2007 | β |