{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,27]],"date-time":"2026-06-27T17:22:51Z","timestamp":1782580971245,"version":"3.54.5"},"reference-count":20,"publisher":"Wiley","license":[{"start":{"date-parts":[[2024,2,12]],"date-time":"2024-02-12T00:00:00Z","timestamp":1707696000000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Human Mutation"],"published-print":{"date-parts":[[2024,2,12]]},"abstract":"<jats:p>Here, we present a Han Chinese pediatric girl highly suspected of congenial disorder of glycosylation type IIL (CDG2L; OMIM#614576). Her clinical symptoms include transferase abnormal, liver cirrhosis, hemogram, coagulopathy, growth retardation, intellectual disability, frequent infections, and enamel hypoplasia. Trio-genome sequencing identified in COG6 a paternal variant c.1672C&gt;T (p.Gln558Ter) and a maternal variant c.153+392A&gt;G (p.?). Reverse transcription-polymerase chain reaction (RT-PCR) using mRNA isolated from peripheral blood confirmed the pathogenicity of both variants. The paternal variant resulted in nonsense-mediated mRNA decay. The maternal variant generated two aberrant COG6 transcripts with 154\u2009bp overlap and was predicted to result in a frameshift at the same position, leading to generation of a premature termination codon. They might result in synthesis of a truncated form of COG6. Thus, the patient was genetically diagnosed.<\/jats:p>","DOI":"10.1155\/2024\/9857442","type":"journal-article","created":{"date-parts":[[2024,2,12]],"date-time":"2024-02-12T20:35:08Z","timestamp":1707770108000},"page":"1-7","source":"Crossref","is-referenced-by-count":3,"title":["COG6-CDG: Two Novel Variants and Milder Phenotype in a Chinese Patient"],"prefix":"10.1155","volume":"2024","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4258-1731","authenticated-orcid":true,"given":"Xue-Yuan","family":"Zhang","sequence":"first","affiliation":[{"name":"The Center for Pediatric Liver Diseases, Children\u2019s Hospital of Fudan University, Department of Pediatrics, Shanghai 201102, China"},{"name":"Shanghai Medical College of Fudan University, Shanghai 201102, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7290-8304","authenticated-orcid":true,"given":"Jing","family":"Zhang","sequence":"additional","affiliation":[{"name":"The Center for Pediatric Liver Diseases, Children\u2019s Hospital of Fudan University, Department of Pediatrics, Shanghai 201102, China"},{"name":"Shanghai Medical College of Fudan University, Shanghai 201102, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3311-4501","authenticated-orcid":true,"given":"Yi","family":"Lu","sequence":"additional","affiliation":[{"name":"The Center for Pediatric Liver Diseases, Children\u2019s Hospital of Fudan University, Department of Pediatrics, Shanghai 201102, China"},{"name":"Shanghai Medical College of Fudan University, Shanghai 201102, China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","reference":[{"key":"1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2015.07.003"},{"key":"2","doi-asserted-by":"publisher","DOI":"10.1002\/bdr2.1981"},{"key":"3","doi-asserted-by":"publisher","DOI":"10.1002\/jmd2.12338"},{"key":"4","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-017-1809-4"},{"key":"5","doi-asserted-by":"publisher","DOI":"10.1016\/j.jmoldx.2021.07.028"},{"key":"6","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btp324"},{"key":"7","doi-asserted-by":"publisher","DOI":"10.1038\/ng.806"},{"key":"8","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth.3505"},{"key":"9","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkq603"},{"key":"10","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbagen.2020.129751"},{"key":"11","doi-asserted-by":"publisher","DOI":"10.1111\/liv.14422"},{"key":"12","doi-asserted-by":"publisher","DOI":"10.1101\/pdb.prot101303"},{"key":"13","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"14","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2018.12.015"},{"key":"15","doi-asserted-by":"publisher","DOI":"10.1111\/cge.14142"},{"key":"16","doi-asserted-by":"publisher","DOI":"10.1111\/cge.14322"},{"key":"17","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2022.815210"},{"key":"18","doi-asserted-by":"publisher","DOI":"10.3390\/ijms23084294"},{"key":"19","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23920"},{"key":"20","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2013-101527"}],"container-title":["Human Mutation"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/downloads.hindawi.com\/journals\/humu\/2024\/9857442.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/journals\/humu\/2024\/9857442.xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/journals\/humu\/2024\/9857442.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,2,12]],"date-time":"2024-02-12T20:35:11Z","timestamp":1707770111000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.hindawi.com\/journals\/humu\/2024\/9857442\/"}},"subtitle":[],"editor":[{"given":"Zhiyu","family":"Peng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"editor"}]}],"short-title":[],"issued":{"date-parts":[[2024,2,12]]},"references-count":20,"alternative-id":["9857442","9857442"],"URL":"https:\/\/doi.org\/10.1155\/2024\/9857442","relation":{},"ISSN":["1098-1004","1059-7794"],"issn-type":[{"value":"1098-1004","type":"electronic"},{"value":"1059-7794","type":"print"}],"subject":[],"published":{"date-parts":[[2024,2,12]]}}}