Article
Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms.
Molecular genetics & genomic medicine - 1 Oct 2021
Yabumoto Megan, Kianmahd Jessica, Singh Meghna, Palafox Maria F, Wei Angela, Elliott Kathryn, Goodloe Dana H, Dean S Joy, Gooch Catherine, Murray Brianna K, Swartz Erin, Schrier Vergano Samantha A, Towne Meghan C, Nugent Kimberly, Roeder Elizabeth R, Kresge Christina, Pletcher Beth A, Grand Katheryn, Graham John M, Gates Ryan, Gomez-Ospina Natalia, Ramanathan Subhadra, Clark Robin Dawn, Glaser Kimberly, Benke Paul J, Cohen Julie S, Fatemi Ali, Mu Weiyi, Baranano Kristin W, Madden Jill A, Gubbels Cynthia S, Yu Timothy W, Agrawal Pankaj B, Chambers Mary-Kathryn, Phornphutkul Chanika, Pugh John A, Tauber Kate A, Azova Svetlana, Smith Jessica R, O'Donnell-Luria Anne, Medsker Hannah, Srivastava Siddharth, Krakow Deborah, Schweitzer Daniela N, Arboleda Valerie A
Abstract excerpt
The phenotypic variability associated with pathogenic variants in Lysine Acetyltransferase 6B (KAT6B, a.k.a. MORF, MYST4) results in several interrelated syndromes including Say-Barber-Biesecker-Young-Simpson Syndrome and Genitopatellar Syndrome. Here we present 20 new cases representing 10 novel KAT6B variants. These patients exhibit a range of clinical phenotypes including intellectual disability, mobility and...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.