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Published on: April 4, 2018
A Novel Compound Heterozygous Gene Mutation of Dolichol Kinase Deficiency (DOLK-CDG)
Shufeng Yu1, Ying Zhang2, Zhihong Chen2
1Qingdao University, Qingdao, Shandong, China.
Background:
Congenital disorder of glycosylation caused by mutation of the DOLK(DOLK-CDG) is a group of rare autosomal recessive diseases with an early-onset age and poor prognosis. DOLK-CDG can cause the dysfunction of multiple systems and organs such as the heart, skin, nerves, and bones.
Case Presentation:
We report a child with DOLK-CDG diagnosed and treated in the Affiliated Hospital of Qingdao University. The child was born with neonatal asphyxia, Ichthyoid rash, and congenital heart disease. His fingers of both the hands looked like lotus roots, and the palm and foot were covered by a white membrane. He was hospitalized with a severe infection at 4 months after birth. Physical examination showed that he was complicated with development delay and hypotonia. He experienced convulsions 1 hour after admission and died of multiple organ failure 2 hours after admission. Blood samples were taken for genetic testing before the child died. The results showed that there was a novel compound heterozygous mutation in DOLK, c.1268C>G (P.P423R) and c.1581_1583del (P.527_528del).
Conclusion:
This mutation is new 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 a literature review.
Insights
A rare DOLK-Congenital disorder of glycosylation (DOLK-CDG) case revealed a novel mutation in the DOLK gene. This discovery expands the known DOLK-CDG mutation spectrum and aids in understanding this severe genetic condition.
Area of Science:
- Biochemistry
- Genetics
- Pediatrics
Background:
- Congenital disorder of glycosylation (DOLK-CDG) is a rare, autosomal recessive disease.
- It presents early in life with multi-systemic involvement, including cardiac, skin, neurological, and skeletal issues.
- DOLK-CDG is associated with a poor prognosis.
Approach:
- A case study of a neonate diagnosed with DOLK-CDG at the Affiliated Hospital of Qingdao University.
- Clinical presentation included neonatal asphyxia, ichthyoid rash, congenital heart disease, developmental delay, and hypotonia.
- Genetic analysis identified a novel compound heterozygous mutation in the DOLK gene: c.1268C>G (P.P423R) and c.1581_1583del (P.527_528del).
Key Points:
- The identified DOLK gene mutation is novel and not previously documented in human gene mutation databases.
- This finding broadens the known spectrum of mutations associated with DOLK-CDG.
- The case highlights the severe clinical manifestations and rapid progression of the disease.
Conclusions:
- The discovery of this novel mutation contributes to a comprehensive understanding of DOLK-CDG genetics.
- A literature review was conducted to compile known DOLK-CDG mutation sites and clinical features up to August 2021.
- This research aids in diagnosing and managing rare genetic disorders.
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