Suleiman-El-Hattab syndrome is an autosomal recessive syndrome characterized by developmental delay, acquired microcephaly, distinctive facial features, and multiple congenital anomalies involving skeletal, cardiac, and renal systems. It has been reported that homozygous loss-of-function mutations in TASP1 cause this syndrome. TASP1 encodes an activator of the histone methyltransferases KMT2A and KMT2D, which are essential for histone methylation and transcription regulation.
Suleiman J, Riedhammer KM, Jicinsky T, Mundt M, Werner L, Gusic M, Burgemeister AL, Alsaif HS, Abdulrahim M, Moghrabi NN, Nicolas-Jilwan M, AlSayed M, Bi W, Sampath S, Alkuraya FS, El-Hattab AW
タイトル
Homozygous loss-of-function variants of TASP1, a gene encoding an activator of the histone methyltransferases KMT2A and KMT2D, cause a syndrome of developmental delay, happy demeanor, distinctive facial features, and congenital anomalies.
