Suleiman-El-Hattab syndrome: a histone modification disorder caused by TASP1 deficiency.
Korbinian Maria RiedhammerAnna L BurgemeisterVincent CantagrelJeanne AmielKarine Siquier-PernetNathalie BoddaertJozef HertecantPatricia L KannoucheCaroline PouvelleStephanie HtunAnne M SlavotinekChristian BeetzDan Diego-AlvarezKapil KampeNicole FleischerZain AwamlehRosanna WeksbergMatthias ElstnerThomas MeitingerJehan SuleimanAyman W. El-HattabPublished in: Human molecular genetics (2022)
This work further delineates Suleiman-El-Hattab syndrome, a recognizable neurodevelopmental syndrome. Possible downstream mechanisms of TASP1 deficiency include perturbed HOX gene expression and dysregulated TFIIA complex. Methylation pattern suggests that Suleiman-El-Hattab syndrome can be categorized into the group of histone modification disorders including Wiedemann-Steiner and Kabuki syndrome.