Congenital Disorders of Glycosylation
Gene: SLC9A7
6 males from 2 unrelated families with hemizygous missense mutation in the SLC9A7 gene. The mutation segregated with the disorder in the family. In vitro functional expression studies in CHO cells (AP-1 cells) showed that the mutation caused decreased levels of protein expression and reduced oligosaccharide maturation/glycosylation compared to wildtype, indicating impaired posttranslational processing. Subcellular localization studies indicated that protein trafficking was unaffected by the mutation. However, examination of the trans-Golgi compartment suggested a gain-of-function effect and a perturbation of glycosylation of secretory cargo. Serum transferrin studies in 1 patient suggested a glycosylation defect.
Sources: Expert listCreated: 28 Nov 2020, 4:35 a.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Intellectual developmental disorder, X-linked 108, OMIM #301024
Publications
Gene: slc9a7 has been classified as Amber List (Moderate Evidence).
Gene: slc9a7 has been classified as Amber List (Moderate Evidence).
gene: SLC9A7 was added gene: SLC9A7 was added to Congenital Disorders of Glycosylation. Sources: Expert list Mode of inheritance for gene: SLC9A7 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: SLC9A7 were set to 30335141 Phenotypes for gene: SLC9A7 were set to Intellectual developmental disorder, X-linked 108, OMIM #301024 Review for gene: SLC9A7 was set to AMBER