ArticleAmerican journal of medical genetics. Part C, Seminars in medical genetics2010
High prevalence of diabetes and pre-diabetes in adults with Williams syndrome.
Article in American journal of medical genetics. Part C, Seminars in medical genetics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed, 48 citations in OpenAlex.
- Dermatologic manifestations in an adult with Williams syndrome.JAAD case reports · 2026Article
- Resting Energy Expenditure in Adults With Williams Syndrome: Comparative Accuracy of Predictive Equations.Journal of intellectual disability research : JIDR · 2026Article
- Metabolomic profiles in serum uncover novel biomarkers in children with Williams-Beuren syndrome.Scientific reports · 2025Article
- Metabolic profiling reveals altered amino acid and fatty acid metabolism in children with Williams Syndrome.Scientific reports · 2024Article
- In individuals with Williams syndrome, dysregulation of methylation in non-coding regions of neuronal and oligodendrocyte DNA is associated with pathology and cortical development.Molecular psychiatry · 2023Article
- A case report of interventricular hemorrhage in William-Beuren syndrome.Annals of medicine and surgery (2012) · 2022Article
- Psychotic Symptoms and Malignant Neuroleptic Syndrome in Williams Syndrome: A Case Report.Frontiers in psychiatry · 2022Article
- Williams syndrome.Nature reviews. Disease primers · 2021Review
- Elastic tissue disruption is a major pathogenic factor to human vascular disease.Molecular biology reports · 2021Review
- Integrative network analysis reveals biological pathways associated with Williams syndrome.Journal of child psychology and psychiatry, and allied disciplines · 2019Article
- Robust Candidates for Language Development and Evolution Are Significantly Dysregulated in the Blood of People With Williams Syndrome.Frontiers in neuroscience · 2019Article
- Williams Syndrome, Human Self-Domestication, and Language Evolution.Frontiers in psychology · 2019Article
- The 7q11.23 Protein DNAJC30 Interacts with ATP Synthase and Links Mitochondria to Brain Development.Cell · 2018Article
- Glucose and lipid metabolism, bone density, and body composition in individuals with Williams syndrome.Clinical endocrinology · 2018Article
- Brief Report: Major Depressive Disorder with Psychotic Features in Williams Syndrome: A Case Series.Journal of autism and developmental disorders · 2018Article
- Impaired glucose metabolism in subjects with the Williams-Beuren syndrome: A five-year follow-up cohort study.PloS one · 2017Observational
- High prevalence of cardiovascular risk factors in children and adolescents with Williams-Beuren syndrome.BMC pediatrics · 2015Article
- Williams-Beuren Syndrome: A Clinical Study of 55 Brazilian Patients and the Diagnostic Use of MLPA.BioMed research international · 2015Article
- Elastin Insufficiency Predisposes Mice to Impaired Glucose Metabolism.Journal of molecular and genetic medicine : an international journal of biomedical research · 2014Article
- Williams syndrome and psychosis: a case report.Journal of medical case reports · 2014Article
Corrections and comments
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Authors and funding
9 authors at 1 institution in 1 country.
Funding
Abstract
A standard oral glucose tolerance test (OGTT) was administered to 28 adults with Williams syndrome (WS). Three quarters of the WS subjects showed abnormal glucose curves, meeting diagnostic criteria for either diabetes or the pre-diabetic state of impaired glucose tolerance. Fasting mean glucose and median insulin levels did not differ significantly in the total WS cohort versus age-gender-BMI matched controls, though the glucose area under the curve was greater in the WS subjects. HbA1c levels were not as reliable as the OGTT in diagnosing the presence of diabetes. Given the high prevalence of impaired glucose regulation, adults with WS should be screened for diabetes, and when present should be treated in accordance with standard medical practice. Hemizygosity for a gene mapping to the Williams syndrome chromosome region (WSCR) is likely the major factor responsible for the high frequency of diabetes in WS. Syntaxin-1A is a prime candidate gene based on its location in the WSCR, its role in insulin release, and the presence of abnormal glucose metabolism in mouse models with aberrantly expressed Stx-1a.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.