Congenital Disorders of Glycosylation

Gene: ST3GAL5

Green List (high evidence)

Salt and pepper developmental regression syndrome, also known as Amish infantile epilepsy syndrome, is an autosomal recessive neurocutaneous disorder characterised by infantile onset of refractory and recurrent seizures associated with profoundly delayed psychomotor development and/or developmental regression as well as abnormal movements and visual loss. Affected individuals develop hypo- or hyperpigmented skin macules on the trunk, face, and extremities in early childhood.

Although initially reported in the Amish (founder variant p.Arg288Ter), families from other ethnicities have also been reported.

Created: 21 Dec 2020, 2:46 a.m. | Last Modified: 21 Dec 2020, 2:46 a.m.

Panel Version: 0.327

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Salt and pepper developmental regression syndrome 609056; GM3 synthase deficiency, MONDO:0018274; Lactosylceramide alpha-2,3-sialyltransferase deficiency (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation)

Publications

• 23436467
• 22990144
• 15502825
• 27232954
• 30691927
• 30688114
• 30576498