Article
Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Aug 2020
Zhang Li Xin, Lemire Gabrielle, Gonzaga-Jauregui Claudia, Molidperee Sirinart, Galaz-Montoya Carolina, Liu David S, Verloes Alain, Shillington Amelle G, Izumi Kosuke, Ritter Alyssa L, Keena Beth, Zackai Elaine, Li Dong, Bhoj Elizabeth, Tarpinian Jennifer M, Bedoukian Emma, Kukolich Mary K, Innes A Micheil, Ediae Grace U, Sawyer Sarah L, Nair Karippoth Mohandas, Soumya Para Chottil, Subbaraman Kinattinkara R, Probst Frank J, Bassetti Jennifer A, Sutton Reid V, Gibbs Richard A, Brown Chester, Boone Philip M, Holm Ingrid A, Tartaglia Marco, Ferrero Giovanni Battista, Niceta Marcello, Dentici Maria Lisa, Radio Francesca Clementina, Keren Boris, Wells Constance F, Coubes Christine, Laquerrière Annie, Aziza Jacqueline, Dubucs Charlotte, Nampoothiri Sheela, Mowat David, Patel Millan S, Bracho Ana, Cammarata-Scalisi Francisco, Gezdirici Alper, Fernandez-Jaen Alberto, Hauser Natalie, Zarate Yuri A, Bosanko Katherine A, Dieterich Klaus, Carey John C, Chong Jessica X, Nickerson Deborah A, Bamshad Michael J, Lee Brendan H, Yang Xiang-Jiao, Lupski James R, Campeau Philippe M
Abstract excerpt
PURPOSE: Genitopatellar syndrome and Say-Barber-Biesecker-Young-Simpson syndrome are caused by variants in the KAT6B gene and are part of a broad clinical spectrum called KAT6B disorders, whose variable expressivity is increasingly being recognized. METHODS: We herein present the phenotypes of 32 previously unreported individuals with a molecularly confirmed diagnosis of a KAT6B disorder, report 24 new pathogenic...
Read the complete abstract on PubMed