Article
An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome.
American journal of human genetics - 6 Oct 2022
Choufani Sanaa, McNiven Vanda, Cytrynbaum Cheryl, Jangjoo Maryam, Adam Margaret P, Bjornsson Hans T, Harris Jacqueline, Dyment David A, Graham Gail E, Nezarati Marjan M, Aul Ritu B, Castiglioni Claudia, Breckpot Jeroen, Devriendt Koen, Stewart Helen, Banos-Pinero Benito, Mehta Sarju, Sandford Richard, Dunn Carolyn, Mathevet Remi, van Maldergem Lionel, Piard Juliette, Brischoux-Boucher Elise, Vitobello Antonio, Faivre Laurence, Bournez Marie, Tran-Mau Frederic, Maystadt Isabelle, Fernández-Jaén Alberto, Alvarez Sara, García-Prieto Irene Díez, Alkuraya Fowzan S, Alsaif Hessa S, Rahbeeni Zuhair, El-Akouri Karen, Al-Mureikhi Mariam, Spillmann Rebecca C, Shashi Vandana, Sanchez-Lara Pedro A, Graham John M, Roberts Amy, Chorin Odelia, Evrony Gilad D, Kraatari-Tiri Minna, Dudding-Byth Tracy, Richardson Anamaria, Hunt David, Hamilton Laura, Dyack Sarah, Mendelsohn Bryce A, Rodríguez Nicolás, Sánchez-Martínez Rosario, Tenorio-Castaño Jair, Nevado Julián, Lapunzina Pablo, Tirado Pilar, Carminho Amaro Rodrigues Maria-Teresa, Quteineh Lina, Innes A Micheil, Kline Antonie D, Au P Y Billie, Weksberg Rosanna
Abstract excerpt
Au-Kline syndrome (AKS) is a neurodevelopmental disorder associated with multiple malformations and a characteristic facial gestalt. The first individuals ascertained carried de novo loss-of-function (LoF) variants in HNRNPK. Here, we report 32 individuals with AKS (26 previously unpublished), including 13 with de novo missense variants. We propose new clinical diagnostic criteria for AKS that differentiate it...
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