Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections.

doi:10.1016/j.gim.2023.101023

Article

Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Feb 2024

Jeffries Lauren, Mis Emily K, McWalter Kirsty, Donkervoort Sandra, Brodsky Nina N, Carpier Jean-Marie, Ji Weizhen, Ionita Cristian, Roy Bhaskar, Morrow Jon S, Darbinyan Armine, Iyer Krishna, Aul Ritu B, Banka Siddharth, Chao Katherine R, Cobbold Laura, Cohen Stacey, Custodio Helena M, Drummond-Borg Margaret, Elmslie Frances, Finanger Erika, Hainline Bryan E, Helbig Ingo, Hewson Stacy, Hu Ying, Jackson Adam, Josifova Dragana, Konstantino Monica, Leach Meganne E, Mak Bryan, McCormick David, McGee Elisabeth, Nelson Stanley, Nguyen Joanne, Nugent Kimberly, Ortega Lucy, Goodkin Howard P, Roeder Elizabeth, Roy Sani, Sapp Katie, Saade Dimah, Sisodiya Sanjay M, Stals Karen, Towner Shelley, Wilson William, Khokha Mustafa K, Bönnemann Carsten G, Lucas Carrie L, Lakhani Saquib A

Abstract excerpt

PURPOSE: We sought to delineate a multisystem disorder caused by recessive cysteine-rich with epidermal growth factor-like domains 1 (CRELD1) gene variants. METHODS: The impact of CRELD1 variants was characterized through an international collaboration utilizing next-generation DNA sequencing, gene knockdown, and protein overexpression in Xenopus tropicalis, and in vitro analysis of patient immune cells. RESULTS:...

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Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections.

Abstract excerpt

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