{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T17:12:03Z","timestamp":1790788323896,"version":"4.1.0"},"reference-count":17,"publisher":"Bentham Science Publishers Ltd.","issue":"2","content-domain":{"domain":["eurekaselect.com"],"crossmark-restriction":true},"short-container-title":["EMIDDT"],"published-print":{"date-parts":[[2023,2]]},"abstract":"\nBackground:<\/jats:title>\nCongenital disorder of glycosylation caused by mutation of the\nDOLK(DOLK-CDG) is a group of rare autosomal recessive diseases with an early-onset age and\npoor prognosis. DOLK-CDG can cause the dysfunction of multiple systems and organs such as\nthe heart, skin, nerves, and bones.<\/jats:p>\n<\/jats:sec>\n\nCase Presentation:<\/jats:title>\nWe report a child with DOLK-CDG diagnosed and treated in the Affiliated\nHospital of Qingdao University. The child was born with neonatal asphyxia, Ichthyoid rash, and\ncongenital heart disease. His fingers of both the hands looked like lotus roots, and the palm and\nfoot were covered by a white membrane. He was hospitalized with a severe infection at 4 months\nafter birth. Physical examination showed that he was complicated with development delay and\nhypotonia. He experienced convulsions 1 hour after admission and died of multiple organ failure\n2 hours after admission. Blood samples were taken for genetic testing before the child died. The\nresults showed that there was a novel compound heterozygous mutation in DOLK, c.1268C\uff1eG\n(P.P423R\uff09and c.1581_1583del (P.527_528del).<\/jats:p>\n<\/jats:sec>\n\nConclusion:<\/jats:title>\nThis mutation is new and not included in the human gene mutation library. The\ndiscovery of the novel mutation broadened the mutation spectrum of DOLK. At the same time,\nwe sorted out the DOLK-CDG gene mutation sites and related clinical manifestations reported\nby August 2021 through a literature review.<\/jats:p>\n<\/jats:sec>","DOI":"10.2174\/1871530322666220607123739","type":"journal-article","created":{"date-parts":[[2022,6,8]],"date-time":"2022-06-08T11:39:24Z","timestamp":1654688364000},"page":"235-241","update-policy":"https:\/\/doi.org\/10.2174\/bsp_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["A Novel Compound Heterozygous Gene Mutation of Dolichol Kinase Deficiency\n(DOLK-CDG)"],"prefix":"10.2174","volume":"23","author":[{"given":"Caixia","family":"Wang","sequence":"first","affiliation":[{"name":"Children's Medical Center, Affiliated Hospital of Qingdao University,\nQingdao, Shandong, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2780-9742","authenticated-orcid":true,"given":"Shufeng","family":"Yu","sequence":"additional","affiliation":[{"name":"Qingdao University, Qingdao, Shandong, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ying","family":"Zhang","sequence":"additional","affiliation":[{"name":"Children's Medical Center, Affiliated Hospital of Qingdao University,\nQingdao, Shandong, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhihong","family":"Chen","sequence":"additional","affiliation":[{"name":"Children's Medical Center, Affiliated Hospital of Qingdao University,\nQingdao, Shandong, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jiye","family":"Song","sequence":"additional","affiliation":[{"name":"Children's Medical Center, Affiliated Hospital of Qingdao University,\nQingdao, Shandong, China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"965","reference":[{"key":"ref=1","doi-asserted-by":"publisher","first-page":"129751","DOI":"10.1016\/j.bbagen.2020.129751","volume":"1865","author":"Ondruskova N.","year":"2021","unstructured":"Ondruskova N.; Cechova A.; Hansikova H.; Honzik T.; Jaeken J.; Congenital disorders of glycosylation: Still “hot” in 2020. 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