ArticleAmerican journal of medical genetics. Part C, Seminars in medical genetics2019
A dyadic genotype-phenotype approach to diagnostic criteria for Proteus syndrome.
Article in American journal of medical genetics. Part C, Seminars in medical genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers, 1 of them a synthesis that pooled it.
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Who cites it
18 citing papers in PubMed, 1 synthesis or guideline pooled it, 39 citations in OpenAlex.
- Tumour spectrum inJournal of medical genetics · 2025Pooled it
- Characterizing Paratesticular Neoplasms in Proteus Syndrome.The American journal of surgical pathology · 2026Article
- Proteus Syndrome: Case Report and Updated Literature Review.Archives of plastic surgery · 2024Article
- Quantification of Proteus syndrome-associated lung disease.Orphanet journal of rare diseases · 2024Article
- Recurrent laryngeal lymphangiomatosis in a patient with Proteus syndrome: A case report.Clinical case reports · 2023Article
- Cancer and Radiosensitivity Syndromes: Is Impaired Nuclear ATM Kinase Activity the Primum Movens?Cancers · 2022Review
- Late-onset Proteus syndrome with cerebriform connective tissue nevus and subsequent development of intraductal papilloma.American journal of medical genetics. Part A · 2022Article
- Postmortem Diagnosis of the Proteus Syndrome by Next Generation Sequencing of Affected Brain Tissue.Academic forensic pathology · 2022Article
- Development of the Clinical Gestalt Assessment: a visual clinical global impression scale for Proteus syndrome.Orphanet journal of rare diseases · 2022Article
- A standard of care for individuals with PIK3CA-related disorders: An international expert consensus statement.Clinical genetics · 2022Review
- Lateralized and Segmental Overgrowth in Children.Cancers · 2021Review
- Mosaicism and the taxonomy of human disease.Cold Spring Harbor molecular case studies · 2021Article
- Immature teratoma in an adolescent with Proteus syndrome: A novel association.Clinical case reports · 2021Article
- Cardiothoracic imaging findings of Proteus syndrome.Scientific reports · 2021Article
- Ubiquitous expression of Akt1 p.(E17K) results in vascular defects and embryonic lethality in mice.Human molecular genetics · 2020Article
- Acne following Blaschko's lines in Proteus syndrome.JAAD case reports · 2020Article
- Allelic heterogeneity of Proteus syndrome.Cold Spring Harbor molecular case studies · 2020Article
- Characterization and Childhood Tumor Risk Assessment of Genetic and Epigenetic Syndromes Associated With Lateralized Overgrowth.Frontiers in pediatrics · 2020Review
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
Abstract
Phenotype-based diagnostic criteria were developed for Proteus syndrome in 1999 and updated in 2006. Subsequently, the causative mosaic gene alteration was discovered, the c.49G>A p.E17K variant in AKT1. As well, a number of overlapping overgrowth disorders attributable to mosaic PIK3CA variants have now been characterized, leading to the designation of PIK3CA-related overgrowth spectrum (PROS). Finally, ongoing work to better characterize Proteus syndrome has led to identification of additional features of that disorder that could be useful in diagnostic criteria. We have taken the opportunity of these discoveries to re-evaluate the Proteus syndrome diagnostic criteria. Here we propose a new set of diagnostic criteria that establishes a weighted, point-based system for the phenotypic attributes and then integrates that with the potential molecular test results to result in one of two designations: AKT1-related Proteus syndrome or AKT1-related overgrowth spectrum. A patient whose only manifestation is an AKT1 c.49G>A-positive tumor would receive neither of these designations. Here we review the rational basis of diagnostic criteria and argue that a unitary diagnostic entity is a distinct gene-phenotype dyad and that this should be the model for all mendelian disorders. The gene-alone or phenotype-alone approach is inadequate to rigorously delineate a unitary diagnostic entity.
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