Congenital disorders of glycosylation and the challenge of rare diseases

Congenital disorders of glycosylation and the challenge of rare diseases The congenital disorders of glycosylation are a diverse group of disorders, which present both common and unique challenges in the diagnosis of rare disorders. These disorders affect a variety of structures and processes in their synthesis. Studies by Himmelreich and by Ng and their coworkers are discussed as they exemplify the extremes of such challenges. These include ascertainment bias associated with the recognition of only extreme phenotypes, variant classification limited by the rarity of the observed variant, limitations in glycan methodology, and expression patterns that can change with time and tissue type. The continuing importance of functional studies to help sort out these challenges is highlighted. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Human Mutation Wiley

Congenital disorders of glycosylation and the challenge of rare diseases

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Abstract

The congenital disorders of glycosylation are a diverse group of disorders, which present both common and unique challenges in the diagnosis of rare disorders. These disorders affect a variety of structures and processes in their synthesis. Studies by Himmelreich and by Ng and their coworkers are discussed as they exemplify the extremes of such challenges. These include ascertainment bias associated with the recognition of only extreme phenotypes, variant classification limited by the rarity of the observed variant, limitations in glycan methodology, and expression patterns that can change with time and tissue type. The continuing importance of functional studies to help sort out these challenges is highlighted.

Journal

Human MutationWiley

Published: Aug 1, 2019

Keywords: ; ; ; ;

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