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

ABSTRACT:

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 microarray/exome sequencing in all individuals. Western blotting from fibroblasts in two individuals. RNA sequencing and proteomics from fibroblasts in one individual. Methylome analysis from blood in two individuals. Knock-out of tasp1 orthologue in zebrafish and phenotyping.

Results

All individuals had biallelic TASP1 loss-of-function variants and a phenotype including deve

SUBMITTER: Riedhammer KM 

PROVIDER: S-EPMC9476618 | biostudies-literature | 2022 Sep

REPOSITORIES: biostudies-literature