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Case Report: A Novel Compound Heterozygous Gene Mutation of Dolichol Kinase Deficiency (DOLK-CDG)

Congenital disorder of glycosylation caused by mutation of the DOLK(DOLK-CDG) is a group of rare autosomal recessive diseases with early onset age and poor prognosis. DOLK-CDG can cause dysfunction of multiple systems and organs such as heart, skin, nerves and bones. We report a child with DOLK-CDG diagnosed and treated in the Affiliated Hospital of Qingdao University. […] This mutation is new mutation and not included in the human gene mutation library. The discovery of the novel mutation broadened the mutation spectrum of DOLK. At the same time, we sorted out the DOLK-CDG gene mutation sites and related clinical manifestations reported by August 2021 through literature review.