Identification of novel PIEZO1 variants using prenatal exome sequencing and correlation to ultrasound and autopsy findings of recurrent hydrops fetalis-Reference-Cited by-同舟云学术

Identification of novel PIEZO1 variants using prenatal exome sequencing and correlation to ultrasound and autopsy findings of recurrent hydrops fetalis

Published:2018-09-23 Issue:12 Volume:176 Page:2829-2834
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Datkhaeva Ilina¹,Arboleda Valerie A.²,Senaratne T. Niroshi²,Nikpour Gelareh¹,Meyerson Cherise²,Geng Yipeng²,Afshar Yalda¹,Scibetta Emily¹,Goldstein Jeffrey²,Quintero-Rivera Fabiola²,Crandall Barbara F.³,Grody Wayne W.²⁴⁵,Deignan Joshua²,Janzen Carla¹

Affiliation:

1. Department of Obstetrics and Gynecology; David Geffen School of Medicine, University of California Los Angeles; Los Angeles California

2. Department of Pathology and Laboratory Medicine, UCLA Clinical Genomics Center; David Geffen School of Medicine, University of California Los Angeles; Los Angeles California

3. Department of Psychiatry, Prenatal Diagnosis Center; David Geffen School of Medicine, University of California Los Angeles; Los Angeles California

4. Department of Pediatrics; David Geffen School of Medicine, University of California Los Angeles; Los Angeles California

5. Department of Human Genetics; David Geffen School of Medicine, University of California Los Angeles; Los Angeles California

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.40533/fullpdf

Reference25 articles.

1. Dehydrated hereditary stomatocytosis linked to gain-of-function mutations in mechanically activated PIEZO1 ion channels;Albuisson;Nature Communications,2013

2. Hennekam syndrome can be caused by FAT4 mutations and be allelic to van Maldergem syndrome;Alders;Human Genetics,2014

3. Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans;Alders;Nature Genetics,2009

4. Xerocytosis is caused by mutations that alter the kinetics of the mechanosensitive channel PIEZO1;Bae;Proceedings of the National Academy of Sciences of the United States of America,2013

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