Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations
Open accessAbstract
The genetic aetiology of autism remains elusive. Occasionally, individuals with Cowden syndrome (a cancer syndrome) and other related hamartoma disorders such as Bannayan-Riley-Ruvalcaba syndrome, Proteus syndrome, and Proteus-like conditions, are characterised by germline PTEN mutations, and may have neurobehavioural features resembling autism as well as overgrowth and macrocephaly. Therefore, we undertook PTEN gene mutation analysis in 18 subjects mainly prospectively ascertained with autism spectrum disorder and macrocephaly. Of these 18 autistic subjects (13 males and five females; ages 3.1–18.4 years) with a head circumference range from 2.5 to 8.0 standard deviations above the mean, three males (17%) carried germline PTEN mutations. These three probands had previously undescribed PTEN mutations: H93R (exon 4), D252G (exon 7), and F241S (exon 7). They had the larger head circumference measurements amongst all our study subjects. The three residues altered in our patients were highly evolutionarily conserved. We suggest that PTEN gene testing be considered for patients with autistic behaviour and extreme macrocephaly. The gene findings may impact on recurrence risks as well as medical management for the patient.
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Mutations in TSC1, TSC2, or PTEN are frequently diagnosed with autism, and each of these proteins regulates synaptic structure.
“Individuals with mutations of tuberous sclerosis proteins 1 and 2 (TSC1, TSC2) or the phosphatase and tensin homolog (PTEN) gene, which causes macroencephaly, are frequently diagnosed with autism38 and each of these proteins regulates synaptic structure39,40.”
From Dendritic spine pathology in neuropsychiatric disorders (2011) · cites this paper as [38]
Among ASD genes affecting head size, CHD8 and PTEN mutations are associated with macrocephaly, while DYRK1A and CDKL5 mutations are associated with microcephaly.
“Among the ASD genes that have effects on head size, mutations in CHD8 (Bernier et al.) and PTEN (Butler et al., 2005) are associated with macrocephaly and mutations of DYRK1A (Courcet et al., 2012) and CDKL5 (Archer et al., 2006) are associated with microcephaly.”
From Getting to the cores of autism (2019) · cites this paper as Butler et al., 2005
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Lanz, T. A., Guilmette, E., Gosink, M. M., Fischer, J. E., Fitzgerald, L. W., Stephenson, D. T., & Pletcher, M. T. (2013) · Molecular Autism · doi:10.1186/2040-2392-4-45 · Cited by 52 · see citing works
A new synaptic player leading to autism risk: Met receptor tyrosine kinase
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Autism Spectrum Disorder Associated with Germline Heterozygous <i>PTEN</i> Mutations
Frazier, T. W. (2019) · Cold Spring Harbor Perspectives in Medicine · doi:10.1101/cshperspect.a037002 · Cited by 37 · see citing works
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- Authors
- Butler, M. G., Dasouki, M. J., Zhou, X.-P., Talebizadeh, Z., Brown, M., Takahashi, T. N., Miles, J. H., Wang, C. H., Stratton, R., Pilarski, R., & Eng, C.
- Affiliations
- Children's Mercy Hospital (US)
- University of Missouri (US)
- Stanford Medicine (US)
- The Ohio State University (US)
- Corresponding author
- Butler, M G
- Venue
- Journal of Medical Genetics
- Publisher
- BMJ
- Published
- 2005-04
- Volume
- 42
- Issue
- 4
- Pages
- 318-321
- ISSN
- 0022-2593 (ISSN-L)
- 1468-6244
- PMC
- PMC1736032
- OpenAlex
- W2102837197
- Cited by
- 778
- References
- 25
- Citations by year
- 2026: 13 · 2025: 23 · 2024: 36 · 2023: 25 · 2022: 38 · 2021: 46 · 2020: 46 · 2019: 45 · 2018: 37 · 2017: 35 · 2016: 40 · 2015: 51 · 2014: 61 · 2013: 44 · 2012: 43
- FWCI
- 13.89
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Journal of Medical Genetics (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Funders
- American Cancer Society
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Keywords
- autism spectrum disorder, macrocephaly, PTEN, germline mutations, Cowden syndrome, hamartoma syndromes, Proteus syndrome, Bannayan-Riley-Ruvalcaba syndrome, head circumference, novel mutations, evolutionary conservation, recurrence risk
- MeSH terms
- Adolescent, Amino Acid Sequence, Animals, Autistic Disorder, Child, Child, Preschool, Female, Humans, Male, Molecular Sequence Data, Phenotype, Genes, Tumor Suppressor, Sequence Alignment, Sequence Homology, Germ-Line Mutation, Craniofacial Abnormalities, Mutation, Missense, PTEN Phosphohydrolase
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Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
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