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

Prenatal diagnosis - 1 Jun 2022

Reytan Sivan, Zunz Henig Noa, Yinon Yoav, Avnet Hagai, Kurolap Alina, Yaron Yuval, Baris Feldman Hagit

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PMID: 35393661
DOI: 10.1002/pd.6142

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Non-immune hydrops fetalis caused by PIEZO1 compound heterozygous deletions detected only by exome sequencing.PMID 35393661Read ↗

PIEZO1 is the most common monogenic etiology of non‐immune hydrops fetalis detected by prenatal exome sequencingSemantic proximity Read ↗

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

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

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

Value of Exome Sequencing in Diagnosis and Management of Recurrent Non-immune Hydrops Fetalis: A Retrospective AnalysisSemantic proximity Read ↗

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

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

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

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

Rapid detection by hydrops panel of Noonan syndrome with PTPN11 mutation (p.Thr73Ile) and persistent thrombocytopenia.Semantic proximity Read ↗

PIEZO1 mutation: a rare aetiology for fetal ascites.Semantic proximity Read ↗

Utility of fetal whole exome sequencing in the etiological evaluation and outcome of nonimmune hydrops fetalisSemantic proximity Read ↗

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