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Article

PIEZO1 loss-of-function compound heterozygous mutations in the rare congenital human disorder Prune Belly Syndrome.

Nature communications - 6 Jan 2024

Amado Nathalia G, Nosyreva Elena D, Thompson David, Egeland Thomas J, Ogujiofor Osita W, Yang Michelle, Fusco Alexandria N, Passoni Niccolo, Mathews Jeremy, Cantarel Brandi, Baker Linda A, Syeda Ruhma

Abstract excerpt

Prune belly syndrome (PBS), also known as Eagle-Barret syndrome, is a rare, multi-system congenital myopathy primarily affecting males. Phenotypically, PBS cases manifest three cardinal pathological features: urinary tract dilation with poorly contractile smooth muscle, wrinkled flaccid ventral abdominal wall with skeletal muscle deficiency, and intra-abdominal undescended testes. Genetically, PBS is poorly...

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Identifiers

PMID: 38184690
DOI: 10.1038/s41467-023-44594-0
PMCID: PMC10771463

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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