Protein-truncating variants in α-1, 3-glucosyltransferase (ALG8) are a risk factor for a mild
cystic kidney disease phenotype. The association between these variants and liver cysts is …

α-1, 2-mannosyltransferase (ALG9) germline variants are linked to autosomal dominant
polycystic kidney disease (ADPKD). Many individuals affected with ADPKD possess …

ALG8 protein-truncating variants (PTVs) have previously been described in patients with
polycystic liver disease and in some cases cystic kidney disease. Given a lack of well …

Methods We identified patients heterozygous for pathogenic (P) and likely pathogenic (LP)
ALG8 (NM_024079. 5) PTVs variants described in ClinVar from the Geisinger-Regeneron …

Disorders of the autosomal dominant polycystic kidney disease (ADPKD) spectrum are
characterized by the development of kidney cysts and progressive kidney function decline …

Background Mutations in PKD1 or PKD2 cause typical autosomal dominant polycystic
kidney disease (ADPKD), the most common monogenic kidney disease. Dominantly …

Congenital Disorders of Glycosylation (CDG) are multisystemic metabolic disorders showing
highly heterogeneous clinical presentation, molecular etiology, and laboratory results. Here …

Introduction Monoallelic variants in the ALG5 gene encoding asparagine-linked
glycosylation protein 5 homolog (ALG5) have been recently shown to disrupt polycystin-1 …

Congenital disorders of glycosylation (CDG) are a group of rare autosomal recessive
genetic disorders caused by pathogenic variants in genes coding for N‐glycosylated …

Congenital disorders of glycosylation (CDGs) are a continuously expanding group of
monogenic disorders of glycoprotein and glycolipid biosynthesis that cause multisystem …