<unk>  is caused by loss of function mutations in the gene MAGT1. MAGT1 is a 70 kb gene with 10 exons encoding for a 335 amino acid protein that maps to Xq21.1. MagT1 is a component of the N-linked glycosylation machinery (oligosacchyrltransferase, OST), a fundamental component of all cells that regulates the attachment of sugar moieties onto specific sites in proteins. Many of the immunodeficiency-related features of<unk>  are related to the hypoglycosylation phenotype caused by loss of the OST component MagT1. The conclusive connection between MAGT1, glycosylation, and Mg2+ import remains unknown. A prominent hypothesis from<unk>  patients suggests that MAGT1's role in glycosylation is essential to the function (either directly or indirectly) of a Mg+2 transporter. MAGT1 is evolutionarily conserved and expressed in all mammalian cells with higher expression in hematopoietic lineages.<unk>  patients have been found to carry both MAGT1 deletions and missense mutations. However, the severity of the phenotype is not entirely explained by the genotype. The<unk>  severity also likely depends on environmental and other genetic factors.<unk>  follows an X-linked inheritance pattern because the MAGT1 is located on the X chromosome. Mothers of<unk>  patients exhibit preferential X chromosome inactivation of the chromosome with the mutation in their hematopoietic cells and are asymptomatic.
XMEN disease
Fanconi–Bickel syndrome
Abruzzo–Erickson syndrome
Treacher Collins syndrome
Hajdu–Cheney syndrome
LIG4 syndrome
Fanconi syndrome
Fazio–Londe disease