{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T10:01:33Z","timestamp":1753869693674,"version":"3.41.2"},"reference-count":23,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2020,11,18]],"date-time":"2020-11-18T00:00:00Z","timestamp":1605657600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81702919"],"award-info":[{"award-number":["81702919"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2020,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Liver failure caused by TRMU is a rare hereditary disorder and clinically manifests into metabolic acidosis, hyperlactatemia, and hypoglycemia. Limited spectrum of TRMU pathogenic variants has been reported.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Whole\u2010exome sequencing was employed for the diagnosis of a 5\u2010day\u2010old female who suffered from severe neonatal hyperlactatemia and hypoglycemia since birth. Sanger sequencing was performed to confirm the origin of the variants subsequently. Variants classification was followed to ACMG guideline.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>A compound heterozygosity of a frameshiftc.34_35dupTC (p.Gly13fs) and a missense c.244T&gt;G (p.Phe82Val) in TRMU was detected, both variants are novel and pathogenic. Analysis of clinical and genetic information including patients reported previously indicated that there is no significant correlation between the genotype and the phenotype of TRMU\u2010caused liver failure.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>To the best of our knowledge, this is the first case report of TRMU\u2010caused liver failure in China. Whole\u2010exome sequencing is effective for conclusive diagnosis of this disorder and beneficial for its clinical management.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1515","type":"journal-article","created":{"date-parts":[[2020,11,18]],"date-time":"2020-11-18T18:49:36Z","timestamp":1605725376000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Whole\u2010exome sequencing identified novel compound heterozygous variants in a Chinese neonate with liver failure and review of literature"],"prefix":"10.1002","volume":"8","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7109-6693","authenticated-orcid":false,"given":"Zailong","family":"Qin","sequence":"first","affiliation":[{"name":"Genetic and Metabolic Central Laboratory Guangxi Birth Defects Research and Prevention Institute Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region Nanning Guangxi 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