Genome Sequencing Uncovers Additional Findings in Phelan-McDermid Syndrome.

doi:10.1002/ajmg.b.33036

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Article

Genome Sequencing Uncovers Additional Findings in Phelan-McDermid Syndrome.

American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics - 1 Oct 2025

Moses Rachel Gore, Similuk Morgan, Hehn Alexandra, Duncan Rylee, Pekar Margaret, Gordon-Lipkin Eliza, Acosta Maria T, Zeltser Deena, Reynolds-Lallement Nadjalisse, Soorya Latha, Sahin Mustafa, Levy Tess, Kolevzon Alexander, Buxbaum Joseph D, Berry-Kravis Elizabeth, Powell Craig M, Bernstein Jonathan A, Tokita Mari, Seifert Bryce A, Ghosh Rajarshi, Walkiewicz Magdalena A, Thurm Audrey

Abstract excerpt

Phelan-McDermid syndrome (PMS) is a genetic condition caused by deletions of chromosome 22q13.3 or pathogenic variants in the SHANK3 gene. Neurologic features typically include intellectual disability, autism spectrum disorder, hypotonia, and absent speech, though there is considerable variability even among individuals with the same molecular cause. This prospective study aimed to explore the utility of genome...

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Identifiers

PMID: 40519070
DOI: 10.1002/ajmg.b.33036
PMCID: PMC12235757

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