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Article

Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis.

Nature communications - 3 Sept 2015

Fotiou Elisavet, Martin-Almedina Silvia, Simpson Michael A, Lin Shin, Gordon Kristiana, Brice Glen, Atton Giles, Jeffery Iona, Rees David C, Mignot Cyril, Vogt Julie, Homfray Tessa, Snyder Michael P, Rockson Stanley G, Jeffery Steve, Mortimer Peter S, Mansour Sahar, Ostergaard Pia

Abstract excerpt

Generalized lymphatic dysplasia (GLD) is a rare form of primary lymphoedema characterized by a uniform, widespread lymphoedema affecting all segments of the body, with systemic involvement such as intestinal and/or pulmonary lymphangiectasia, pleural effusions, chylothoraces and/or pericardial effusions. This may present prenatally as non-immune hydrops. Here we report homozygous and compound heterozygous...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 26333996
DOI: 10.1038/ncomms9085
PMCID: PMC4568316

Genes

PIEZO1

Provenance

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.

Related research

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Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis.PMID 26333996Read ↗

PIEZO1 Hypomorphic Variants in Congenital Lymphatic Dysplasia Cause Shape and Hydration Alterations of Red Blood CellsSemantic proximity Read ↗

Identification of novel PIEZO1 variants using prenatal exome sequencing and correlation to ultrasound and autopsy findings of recurrent hydrops fetalisSemantic proximity Read ↗

Impaired PIEZO1 function in patients with a novel autosomal recessive congenital lymphatic dysplasia.Semantic proximity Read ↗

Small-molecule functional rescue of PIEZO1 channel variants associated with generalised lymphatic dysplasiaSemantic proximity Read ↗

PIEZO1-gene gain-of-function mutations with lower limb lymphedema onset in an adult: Clinical, scintigraphic, and noncontrast magnetic resonance lymphography findings.Semantic proximity Read ↗

The fetal hydrops-associated single-residue mutation L322P abolishes mechanical but not chemical activation of the PIEZO1 ion channelSemantic proximity Read ↗

Human phenotypes caused by PIEZO1 mutations; one gene, two overlapping phenotypes?Semantic proximity Read ↗

Non-immune hydrops fetalis caused by PIEZO1 compound heterozygous deletions detected only by exome sequencing.Semantic proximity Read ↗

Extended phenotypes of PIEZO1-related lymphatic dysplasia caused by two novel compound heterozygous variants.Semantic proximity Read ↗

PIEZO1 variant implications for biological understanding and human healthSemantic proximity Read ↗

The fetal hydrops-associated single-residue mutation L322P disrupts mechanical but not chemical activation of the PIEZO1 ion channel.Semantic proximity Read ↗

Perinatal presentations of nonimmune hydrops fetalis due to biallelic pathogenic variants in PIEZO1: underdiagnosed?Semantic proximity Read ↗

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