Congenital lymphatic dysplasia and severe bone disease in a term neonate with a novel homozygous <scp><i>PIEZO1</i></scp> variant-Reference-Cited by-同舟云学术

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Congenital lymphatic dysplasia and severe bone disease in a term neonate with a novel homozygous PIEZO1 variant

Published:2024-06 Issue:6 Volume:12 Page:
ISSN:2050-0904
Container-title:Clinical Case Reports
language:en
Short-container-title:Clinical Case Reports

Author:

Ketchum Elizabeth H.¹²^ORCID,Groomes Charles L.¹²,Ghersi Alexis N.²,Graziose Brian B.²,Wilson Sharen C.²,Zven Sidney E.²,Hicks Rebecca L.²,Langley William A.³,Reott Michael A.³,Schacht John P.¹²,Schulz Elizabeth V.¹²,Curtis Jerri¹²

Affiliation:

1. Uniformed Services University Bethesda Maryland USA

2. Walter Reed National Military Medical Center Bethesda Maryland USA

3. MNG Laboratories A Labcorp Company Burlington North Carolina USA

Abstract

Key Clinical MessageWe report a patient with nonimmune fetal hydrops and multiple pathologic fractures. RNA analysis revealed a novel PIEZO1 variant. This report is the first to elucidate PIEZO1's role as a critical regulator of bone mass and strength.

Publisher

Wiley

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ccr3.9082

Reference8 articles.

1. Piezo1 piezo type mechanosensitive ion channel component 1 [homo sapiens (human)]—gene—NCBI. National Center for Biotechnology Information. Accessed December 23 2021.https://www.ncbi.nlm.nih.gov/gene/9780

2. PIEZO1 Hypomorphic Variants in Congenital Lymphatic Dysplasia Cause Shape and Hydration Alterations of Red Blood Cells

3. Piezo1 integration of vascular architecture with physiological force

4. Human phenotypes caused byPIEZO1mutations; one gene, two overlapping phenotypes?

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