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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-Hattab
Published 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.
Keyphrases
  • gene expression
  • dna methylation
  • case report
  • replacement therapy
  • smoking cessation
  • congenital heart disease