GTR Home > Tests > Proteus Syndrome and PIK3CA-related Overgrowth Spectrum (PROS)

Overview

Test name

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Proteus Syndrome and PIK3CA-related Overgrowth Spectrum (PROS) (Mosaic Overgrowth)

Purpose of the test

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Contribute to generalizable knowledge

Condition

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2 conditions tested. Click Condition tab for more information.

Methodology

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Molecular Genetics
ESequence analysis of select exons
Next-Generation (NGS)/Massively parallel sequencing (MPS)
TTargeted variant analysis
RFLP

Summary of what is tested

2 genes and variants. Click Methodology tab for more information.

Genes

Description of study

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This research study seeks to understand the natural history, genetic etiology, and possible therapeutic approaches in the management of Proteus syndrome, PIK3CA-related overgrowth spectrum disorders (PROS, CLOVES, HHML), and other overgrowth syndromes with overlapping characteristics. The following materials are required for eligibility determination: 1) Photographs of the affected areas of the patient, 2) A clinic note describing the patient's features and how they have changed over time, 3) Plain x-rays of the affected areas Research modalities differ by phenotype and are determined on a case-by-case basis. Eligible participants' samples will be tested for the known mutations in AKT1 and PIK3CA and/or other candidate mutations. Participants in this study may be eligible for additional therapeutic studies.

Researchers

Person responsible for the studyHelpLeslie Biesecker, MD, Lab Director
Study contactHelpMolly Crenshaw, BS, Laboratory Contact, molly.crenshaw@nih.gov, 301-435-6689 (phone)
Co-investigatorHelpJulie Sapp, ScM, CGC, Genetic Counselor

Suggested reading

  • Lindhurst et al., 2011
    A mosaic activating mutation in AKT1 associated with the Proteus syndrome.
  • Turner et al., 2004
    Reassessment of the Proteus syndrome literature: application of diagnostic criteria to published cases.
  • Biesecker et al., 1998
    Proteus syndrome: diagnostic criteria, differential diagnosis, and patient evaluation.

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

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