A B3GALT6 variant in patient originally described as Al-Gazali syndrome and implicating the ER quality control in the mechanism of some β3GalT6-pathy mutations.
We report a disease-causing variant c.618C>G, p.(Cys206Trp) in one patient originally described as Al-Gazali syndrome and reported in 1999. We evaluated the involvement of the Endoplasmic-reticulum-associated protein degradation (ERAD), in the pathogenesis of thirteen B3GALT6 variants. Retention in ER was evident in six of them while the c.618C>G, p.(Cys206Trp) and the other six variants trafficked normally. Our findings confirm the involvement of B3GALT6 in the pathogenesis of Al-Gazali syndrome and suggest that Al-Gazali syndrome represents the severe end of the spectrum of the phenotypes caused by pathogenic variants in this gene.
PMID: 29443383 [PubMed - as supplied by publisher]
Source: Clinical Genetics - Category: Genetics & Stem Cells Authors: Ben-Mahmoud A, Ben-Salem S, Al-Sorkhy M, John A, Ali BR, Al-Gazali L Tags: Clin Genet Source Type: research