DSC: Using Genome Sequencing to Identify Additional Molecular Diagnoses in Phelan-McDermid Syndrome

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Rare Research Report

RDCRN

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Rare Research Report features summaries of recent scientific publications from the Rare Diseases Clinical Research Network, which is funded by the National Institutes of Health. The network includes 20 active consortia—teams of researchers, patients, and clinicians—each focused on a group of rare disorders. Join us for new episodes each month.

Learn more about the RDCRN: https://www.rarediseasesnetwork.org

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DSC: Using Genome Sequencing to Identify Additional Molecular Diagnoses in Phelan-McDermid Syndrome

Rare Research Report

1 minute

3 months ago

DSC: Using Genome Sequencing to Identify Additional Molecular Diagnoses in Phelan-McDermid Syndrome

New research from the Developmental Synaptopathies Consortium (DSC). This summary is based on a paper published in the American Journal of Medical Genetics on June 16, 2025, titled "Genome Sequencing Uncovers Additional Findings in Phelan-McDermid Syndrome."

Read the paper here.

Learn more about DSC.

Transcript:

New research from the Developmental Synaptopathies Consortium (DSC), a research group of the Rare Diseases Clinical Research Network.

Using Genome Sequencing to Identify Additional Molecular Diagnoses in Phelan-McDermid Syndrome.

This summary is based on a paper published in the American Journal of Medical Genetics on June 16, 2025.

Phelan-McDermid syndrome (PMS) is a genetic neurodevelopmental disorder that results from the loss of a small piece of chromosome 22 or variants in the SHANK3 gene. Symptoms of PMS include intellectual disability, autism spectrum disorder, low muscle tone, and absent speech. However, these symptoms can vary widely from person to person, even among those with the same molecular cause.

In this study, researchers used genome sequencing to identify additional molecular diagnoses that may contribute to symptom variability in PMS. The team analyzed genome sequencing and chromosomal microarray in 20 individuals with PMS.

Results revealed a second molecular finding associated with a neurological condition in three participants. Five additional new molecular diagnoses were associated with a clinically actionable secondary or incidental finding. Authors note that this study provides early evidence for the potential use of expanded sequencing among individuals with PMS, even for those without symptoms outside of the expected range.