Article
Pathogenic SATB2 missense variants affecting p.Gly392 have variable functional implications and result in diverse clinical phenotypes.
Journal of medical genetics - 23 Oct 2024
den Hoed Joery, Hashimoto Hirokazu, Khan Mubeen, Semmekrot Fleur, Bosanko Katherine A, Abe-Hatano Chihiro, Nakagawa Eiji, Venselaar Hanka, Quercia Nada, Chad Lauren, Kurosaka Hiroshi, Rondeau Stephane, Fisher Simon E, Yamamoto Shinya, Zarate Yuri A
Abstract excerpt
SATB2-associated syndrome (SAS) is caused by pathogenic variants in SATB2, which encodes an evolutionarily conserved transcription factor. Despite the broad range of phenotypic manifestations and variable severity related to this syndrome, haploinsufficiency has been assumed to be the primary molecular explanation.In this study, we describe eight individuals with SATB2 variants that affect p.Gly392 (four women,...
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