Endocrine, metabolic & immune disorders drug targets · 2023
A Novel Compound Heterozygous Gene Mutation of Dolichol Kinase Deficiency (DOLK-CDG).
ОбзорКлинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Yu Shufeng, Zhang Ying, Chen Zhihong, Song Jiye, Wang Caixia
Аннотация
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.
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.