Genetic counseling for congenital disorders of glycosylation (CDG)

Abstract

AbstractCongenital disorders of glycosylation (CDGs) are a genetically and clinically diverse group of disorders that arise as a result of defects within glycosylation synthetic pathways. CDGs are caused by pathogenic variants in many different genes in the glycosylation network. With over 160 different CDG types currently identified and a vast range of severity and presentations existing within and across those types, the road to a CDG diagnosis is often lengthy and complicated. The perils of this arduous CDG diagnostic odyssey are fraught with various genetic counseling uncertainties: (1) confusion about family planning, (2) queries about inheritance, (3) managing treatment, and (4) dealing with the uncertainty of rare diseases. Thus, the role of the genetic counselor is paramount in helping affected individuals and their families navigate these genetic counseling complexities. Case examples of common genetic counseling difficulties for CDGs are outlined, providing clinical applications of what CDG presentations, diagnostic processes, and common difficulties look like. Information on the nomenclature, incidence, prevalence, diagnostic testing, treatment, and management of CDGs are also discussed to provide a comprehensive summary of CDGs for genetic counselors, and subsequently to affected individuals and their families.