Journal article
PIEZO1 Hypomorphic Variants in Congenital Lymphatic Dysplasia Cause Shape and Hydration Alterations of Red Blood Cells
Frontiers in physiology, v 10, pp 258-258
15 Mar 2019
PMID: 30930797
Featured in Collection : UN Sustainable Development Goals @ Drexel
Abstract
PIEZO1 is a cation channel activated by mechanical force. It plays an important physiological role in several biological processes such as cardiovascular, renal, endothelial and hematopoietic systems. Two different diseases are associated with alteration in the DNA sequence of
PIEZO1
: (i) dehydrated hereditary stomatocytosis (DHS1, #194380), an autosomal dominant hemolytic anemia caused by gain-of-function mutations; (ii) lymphatic dysplasia with non-immune fetal hydrops (LMPH3, #616843), an autosomal recessive condition caused by biallelic loss-of-function mutations. We analyzed a 14-year-old boy affected by severe lymphatic dysplasia already present prenatally, with peripheral edema, hydrocele, and chylothoraces. By whole exome sequencing, we identified compound heterozygosity for
PIEZO1
, with one splicing and one deletion mutation, the latter causing the formation of a premature stop codon that leads to mRNA decay. The functional analysis of the erythrocytes of the patient highlighted altered hydration with the intracellular loss of the potassium content and structural abnormalities with anisopoikolocytosis and presence of both spherocytes and stomatocytes. This novel erythrocyte trait, sharing features with both hereditary spherocytosis and overhydrated hereditary stomatocytosis, complements the clinical features associated with loss-of-function mutations of
PIEZO1
in the context of the generalized lymphatic dysplasia of LMPH3 type.
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Details
- Title
- PIEZO1 Hypomorphic Variants in Congenital Lymphatic Dysplasia Cause Shape and Hydration Alterations of Red Blood Cells
- Creators
- Immacolata Andolfo - University of Naples Federico IIGianluca De Rosa - Ceinge Biotecnologie AvanzateEdoardo Errichiello - University of PaviaFrancesco Manna - Ceinge Biotecnologie AvanzateBarbara Eleni Rosato - University of Naples Federico IIAntonella Gambale - University of Naples Federico IIAnnalisa Vetro - Meyer Children's HospitalValeria Calcaterra - University of PaviaGloria Pelizzo - Azienda di Rilievo Nazionale ed Alta SpecializzazioneLucia De Franceschi - University of VeronaOrsetta Zuffardi - University of PaviaRoberta Russo - University of Naples Federico IIAchille Iolascon - University of Naples Federico II
- Publication Details
- Frontiers in physiology, v 10, pp 258-258
- Publisher
- Frontiers Media S.A
- Grant note
- European Hematology Association Ministero dell’Istruzione, dell’Università e della Ricerca
- Resource Type
- Journal article
- Language
- English
- Academic Unit
- Pharmacology and Physiology
- Web of Science ID
- WOS:000461729600001
- Scopus ID
- 2-s2.0-85066455124
- Other Identifier
- 991022004874404721
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- Collaboration types
- Domestic collaboration
- Web of Science research areas
- Physiology