Suleiman-El-Hattab syndrome: a histone modification disorder caused by TASP1 deficiency.

doi:10.1093/hmg/ddac098

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Article

Suleiman-El-Hattab syndrome: a histone modification disorder caused by TASP1 deficiency.

Human molecular genetics - 10 Sept 2022

Riedhammer Korbinian M, Burgemeister Anna L, Cantagrel Vincent, Amiel Jeanne, Siquier-Pernet Karine, Boddaert Nathalie, Hertecant Jozef, Kannouche Patricia L, Pouvelle Caroline, Htun Stephanie, Slavotinek Anne M, Beetz Christian, Diego-Alvarez Dan, Kampe Kapil, Fleischer Nicole, Awamleh Zain, Weksberg Rosanna, Kopajtich Robert, Meitinger Thomas, Suleiman Jehan, El-Hattab Ayman W

Abstract excerpt

BACKGROUND: TASP1 encodes an endopeptidase activating histone methyltransferases of the KMT2 family. Homozygous loss-of-function variants in TASP1 have recently been associated with Suleiman-El-Hattab syndrome. We report six individuals with Suleiman-El-Hattab syndrome and provide functional characterization of this novel histone modification disorder in a multi-omics approach. METHODS: Chromosomal...

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PMID: 35512351
DOI: 10.1093/hmg/ddac098
PMCID: PMC9476618

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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