Congenital Disorders of Glycosylation

Gene: STT3A

Green List (high evidence)

ID/DD reported in all cases (at least 7 individuals from 3 unrelated families, with 2 different homozygous variants in STT3A)

PMID: 34653363 - 16 patients from 9 families with new AD mode of inheritance (both de novo and inherited). All variants were missense within/around acritical active/catalytic sites. Patients aged 3-55yo, with children noted to be "healthy" until reaching young adulthood
Clinical features include dysmorphic features, macrocephaly (6/16), mild-moderate ID/DD (10/16), short stature (8/16), skeletal abnormalities (10/16), muscle cramps (7/16).
Functional studies verifies AR disease is caused by LOF variants, whereas the AD variants cause DN proven by cotransfection in WT yeast resulting in impaired glycosylation (protein levels unchanged).

Created: 1 Nov 2021, 4:48 a.m. | Last Modified: 1 Nov 2021, 4:48 a.m.

Panel Version: 1.20

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Congenital disorder of glycosylation, type Iw MIM#615596

Publications

• PMID: 34653363
• 23842455
• 30701557
• 28424003

Mode of pathogenicity
Other

Green List (high evidence)

Three families reported to date.

Created: 11 Dec 2019, 1:22 a.m. | Last Modified: 11 Dec 2019, 1:22 a.m.

Panel Version: 0.0

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital disorder of glycosylation, type Iw, AR, OMIM #615596; Congenital disorder of glycosylation, type Iw, autosomal dominant, MIM# 619714

Publications

• 23842455
• 30701557
• 28424003