Article
Biallelic loss-of-function variants in PLD1 cause congenital right-sided cardiac valve defects and neonatal cardiomyopathy.
The Journal of clinical investigation - 1 Mar 2021
Lahrouchi Najim, Postma Alex V, Salazar Christian M, De Laughter Daniel M, Tjong Fleur, Piherová Lenka, Bowling Forrest Z, Zimmerman Dominic, Lodder Elisabeth M, Ta-Shma Asaf, Perles Zeev, Beekman Leander, Ilgun Aho, Gunst Quinn, Hababa Mariam, Škorić-Milosavljević Doris, Stránecký Viktor, Tomek Viktor, de Knijff Peter, de Leeuw Rick, Robinson Jamille Y, Burn Sabrina C, Mustafa Hiba, Ambrose Matthew, Moss Timothy, Jacober Jennifer, Niyazov Dmitriy M, Wolf Barry, Kim Katherine H, Cherny Sara, Rousounides Andreas, Aristidou-Kallika Aphrodite, Tanteles George, Ange-Line Bruel, Denommé-Pichon Anne-Sophie, Francannet Christine, Ortiz Damara, Haak Monique C, Ten Harkel Arend D.J., Manten Gwendolyn Tr, Dutman Annemiek C, Bouman Katelijne, Magliozzi Monia, Radio Francesca Clementina, Santen Gijs We, Herkert Johanna C, Brown H Alex, Elpeleg Orly, van den Hoff Maurice Jb, Mulder Barbara, Airola Michael V, Kmoch Stanislav, Barnett Joey V, Clur Sally-Ann, Frohman Michael A, Bezzina Connie R
Abstract excerpt
Congenital heart disease is the most common type of birth defect, accounting for one-third of all congenital anomalies. Using whole-exome sequencing of 2718 patients with congenital heart disease and a search in GeneMatcher, we identified 30 patients from 21 unrelated families of different ancestries with biallelic phospholipase D1 (PLD1) variants who presented predominantly with congenital cardiac valve defects....
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