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Article

Expanded prenatal phenotype of ALG12-associated congenital disorder of glycosylation including bilateral multicystic kidneys.

American journal of medical genetics. Part A - 1 Sept 2024

Shanmugasundaram Manjushree, Wang Amanda, Morand Megan, Bixler Colin, Jain Sangeeta, Ray Joseph

Abstract excerpt

Congenital disorders of glycosylation (CDG) are a group of rare autosomal recessive genetic disorders caused by pathogenic variants in genes coding for N-glycosylated glycoproteins, which play a role in folding, degrading, and transport of glycoproteins in their pathway. ALG12-CDG specifically is caused by biallelic pathogenic variants in ALG12. Currently reported features of ALG12-CDG include: developmental...

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PMID: 38717015
DOI: 10.1002/ajmg.a.63660

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