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Optical Genome Mapping (OGM) Identifies Multiple Structural Variants in a Case With Atypical Phelan-McDermid Syndrome.

American journal of medical genetics. Part A - 1 Mar 2025

Macke Erica L, Miller Anthony R, Colwell Caitlyn M, Gonzalez Maria Hernandez, Hunter Jesse, Venkata Lakshmi Prakruthi Rao, Walker Lauren, Wheeler Gregory, Wilson Richard K, Mardis Elaine R, Miller Katherine E, Mathew Mariam T, Chaudhari Bimal P, Akkari Yassmine

Abstract excerpt

Here we describe a neonate exhibiting hypotonia, macrocephaly, renal cysts, and respiratory failure requiring tracheostomy and ventilator support. Genetic analysis via rapid genome sequencing (rGS) identified a loss on chromosome 4 encompassing polycystin-2 (PKD2) and a loss on chromosome 22 encompassing SH3 and Multiple Ankyrin Repeat Domains 3 (SHANK3), indicative of Phelan-McDermid syndrome. Further analysis...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 39535355
DOI: 10.1002/ajmg.a.63929

Genes

PKD2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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