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A homozygous stop-gain variant in ARHGAP42 is associated with childhood interstitial lung disease, systemic hypertension, and immunological findings

PLoS Genet. 2021-07; 
Qifei Li , Michal Dibus , Alicia Casey , Christina S K Yee , Sara O Vargas , Shiyu Luo , Samantha M Rosen, Jill A Madden , Casie A Genetti , Jan Brabek , Catherine A Brownstein , Shideh Kazerounian, Benjamin A Raby , Klaus Schmitz-Abe , John C Kennedy, Martha P Fishman, Mary P Mullen, Joan M Taylor, Daniel Rosel, Pankaj B Agrawal
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Mammalian Expression Human ARHGAP42 cDNA with C-terminal Flag tag was purchased from GenScript in pcDNA3.1 +/C-(K)-DYK Get A Quote

摘要

ARHGAP42 encodes Rho GTPase activating protein 42 that belongs to a member of the GTPase Regulator Associated with Focal Adhesion Kinase (GRAF) family. ARHGAP42 is involved in blood pressure control by regulating vascular tone. Despite these findings, disorders of human variants in the coding part of ARHGAP42 have not been reported. Here, we describe an 8-year-old girl with childhood interstitial lung disease (chILD), systemic hypertension, and immunological findings who carries a homozygous stop-gain variant (c.469G>T, p.(Glu157Ter)) in the ARHGAP42 gene. The family history is notable for both parents with hypertension. Histopathological examination of the proband lung biopsy showed increased mural smooth musc... More

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