The phenotypic manifestations of interstitial duplications of proximal 15q with special reference to the autistic spectrum disorders
Abstract
This study investigated the phenotypic manifestations of interstitial duplications of chromosome 15 that involve the Prader‐Willi/Angelman syndrome critical region (PWACR). Twenty‐one affected individuals from six families were evaluated in detail, using standardized and semi‐standardized measures of intelligence, psychopathology, and physical anomalies. Special attention was placed on determining the prevalence of autism spectrum disorders as well as the relationship between the parental origin of the duplication and the phenotypic effects. Assessments of the affected individuals were compared with evaluations of the unaffected relatives from the same families. Results indicated that duplications in the region were associated with variable degrees of intellectual impairments and motor coordination problems. Four of the subjects received a diagnosis of pervasive developmental disorder. Three of these cases were probands and only one met criteria for classic autism. There was very little evidence of the duplication cosegregating with autism spectrum disorder diagnosis. Paternally inherited duplications were significantly less likely to give rise to phenotypic effects. The findings indicate that duplications in the PWACR give rise to developmental delay but not necessarily autism spectrum disorders. They also suggest that phenotypic expression is dependent on the parental origin of the duplication and implicate maternally active genes in the pathogenesis of the developmental impairments. Further research will be required to clarify the range and basis of the phenotypic manifestations. © 2001 Wiley‐Liss, Inc.
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Maternally derived duplications of 15q11-q13 convey a high risk of autism.
“More specifically, it is the maternally derived duplications that convey a high risk of autism (189–191).”
From Gene × Environment Interactions in Autism Spectrum Disorders: Role of Epigenetic Mechanisms (2014) · cites this paper as [191]
The behavioral phenotypes associated with 15q11-q13 defects show a parent-of-origin specific effect on phenotypic expression.
“The behavioral phenotypes associated with 15q11–q13 defects show a parent-of-origin specific effect on phenotypic expression.”
From Gene × Environment Interactions in Autism Spectrum Disorders: Role of Epigenetic Mechanisms (2014) · cites this paper as [191]
A subset of the genetic region associated with Prader-Willi syndrome is also associated with an increased risk for ASD, as maternally inherited duplications of the 15q11-13 region are associated with 1-3% of ASD cases.
“A subset of the genetic region associated with PWS is also associated with an increased risk for ASD, as maternally inherited duplications of the 15q11–13 region are associated with 1–3% of ASD cases (Bolton et al., 2001; Cook et al., 1997; Vorstman et al., 2006).”
From Oxytocin and vasopressin systems in genetic syndromes and neurodevelopmental disorders (2014) · cites this paper as Bolton et al., 2001
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- Authors
- Bolton, P. F., Dennis, N. R., Browne, C. E., Thomas, N. S., Veltman, M. W. M., Thompson, R. J., & Jacobs, P.
- Affiliations
- University of Cambridge (GB)
- Princess Anne Hospital (GB)
- Salisbury District Hospital (GB)
- Corresponding author
- Bolton, Patrick Farrar
- Venue
- American Journal of Medical Genetics
- Publisher
- Wiley
- Published
- 2001-09-06
- Volume
- 105
- Issue
- 8
- Pages
- 675-685
- ISSN
- 0148-7299 (ISSN-L)
- 1096-8628
- OpenAlex
- W2157093495
- Cited by
- 246
- References
- 24
- Citations by year
- 2026: 4 · 2025: 3 · 2024: 3 · 2023: 1 · 2022: 3 · 2021: 3 · 2020: 3 · 2019: 4 · 2018: 4 · 2017: 16 · 2016: 4 · 2015: 10 · 2014: 12 · 2013: 8 · 2012: 9
- FWCI
- 5.82
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- American Journal of Medical Genetics (publishedVersion)
- PubMed (publishedVersion)
- ePrints Soton (University of Southampton) (submittedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Syndromes and Imprinting
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Keywords
- autism spectrum disorder, pervasive developmental disorders, intellectual disability, motor coordination deficits, phenotypic expression, developmental delay, co-segregation
- MeSH terms
- Adult, Autistic Disorder, Behavior, Child, Child Development Disorders, Pervasive, Child, Preschool, Chromosome Aberrations, Chromosomes, Human, Pair 15, Cognition, Cognition Disorders, Family Health, Female, Heterozygote, Humans, Intelligence Tests, Male, Pedigree, Phenotype, Psychomotor Performance, Twins, Monozygotic, Gene Duplication
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