{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,3]],"date-time":"2026-08-03T16:29:33Z","timestamp":1785774573828,"version":"3.56.0"},"reference-count":23,"publisher":"F1000 Research Ltd","license":[{"start":{"date-parts":[[2019,9,2]],"date-time":"2019-09-02T00:00:00Z","timestamp":1567382400000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["f1000research.com"],"crossmark-restriction":false},"short-container-title":["F1000Res"],"abstract":"<ns4:p>\n                    Recurrent rhabdomyolysis is frequently ascribed to fatty acid \u00df-oxidation defects, mitochondrial respiratory chain disorders and glycogen storage-related diseases. In recent years, autosomal recessive\n                    <ns4:italic>LPIN1<\/ns4:italic>\n                    mutations have been identified as a prevailing cause of severe rhabdomyolysis in children in Western countries. We report the first probable Hong Kong Chinese case of recurrent severe rhabdomyolysis in early childhood caused by\n                    <ns4:italic>LPIN1<\/ns4:italic>\n                    variants. Compound heterozygous novel variants NM_145693.2(LPIN1):c.[1949_1967dupGTGTCACCACGCAGTACCA]; [2410G&gt;C] (p.[Gly657Cysfs*12];[Asp804His]) were detected. The former variant was classified as likely pathogenic while the latter variant was classified as a variant of uncertain significance (VUS) based on the guideline published by the American College of Medical Genetics and Genomics (ACMG) in 2015. Although the genetic findings were inconclusive, the patient\u2019s presentation was compatible with LPIN1-related acute recurrent rhabdomyolysis, and the patient was treated as such. The early recognition, timely diagnosis and management of this condition are important to avoid fatal consequences. To our knowledge, there has been no previous report in the English-language literature of a child with Chinese ethnicity and\n                    <ns4:italic>LPIN1<\/ns4:italic>\n                    -related acute recurrent rhabdomyolysis (MIM #268200).\u00a0 Functional characterization of the novel variants detected in this study are warranted in future studies.\n                  <\/ns4:p>","DOI":"10.12688\/f1000research.20343.1","type":"journal-article","created":{"date-parts":[[2019,9,2]],"date-time":"2019-09-02T05:10:08Z","timestamp":1567401008000},"page":"1566","update-policy":"https:\/\/doi.org\/10.12688\/f1000research.crossmark-policy","source":"Crossref","is-referenced-by-count":9,"title":["Case Report:\u00a0The first probable Hong Kong Chinese case of LPIN1-related acute recurrent rhabdomyolysis in a boy with two novel variants"],"prefix":"10.12688","volume":"8","author":[{"given":"Sau Wing","family":"Yim","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tina Yee Ching","family":"Chan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kiran M.","family":"Belaramani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sze Shun","family":"Man","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Felix Chi Kin","family":"Wong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sammy Pak Lam","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hencher Han Chih","family":"Lee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chloe Miu","family":"Mak","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chor Kwan","family":"Ching","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"2560","published-online":{"date-parts":[[2019,9,2]]},"reference":[{"key":"ref-1","doi-asserted-by":"publisher","first-page":"121-124","DOI":"10.1038\/83685","article-title":"Lipodystrophy in the fld mouse results from mutation of a new gene encoding a nuclear protein, lipin.","volume":"27","author":"M P\u00e9terfy","year":"2001","journal-title":"Nat Genet."},{"key":"ref-2","doi-asserted-by":"publisher","first-page":"3450-3457","DOI":"10.1074\/jbc.M610745200","article-title":"Three mammalian lipins act as phosphatidate phosphatases with distinct tissue expression patterns.","volume":"282","author":"J Donkor","year":"2007","journal-title":"J Biol Chem."},{"key":"ref-3","doi-asserted-by":"publisher","first-page":"29968-29978","DOI":"10.1074\/jbc.M109.023663","article-title":"A conserved serine residue is required for the phosphatidate phosphatase activity but not the transcriptional coactivator functions of lipin-1 and lipin-2.","volume":"284","author":"J Donkor","year":"2009","journal-title":"J Biol Chem."},{"key":"ref-4","doi-asserted-by":"publisher","first-page":"660-665","DOI":"10.1126\/science.aaa0355","article-title":"Human genomics. 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Buckley, New South Wales Health Pathology, Prince of Wales Hospital, Randwick, NSW, Australia, 16 Sep 2019, version 1, indexed","URL":"https:\/\/f1000research.com\/articles\/8-1566\/v1#referee-response-53286","order":0,"name":"referee-response-53286","label":"Referee Report","group":{"name":"article-reports","label":"Article Reports"}},{"value":"10.5256\/f1000research.22354.r54678, Brian N. Finck, Washington University in St. Louis, St Louis, MI, USA, 31 Oct 2019, version 1, indexed","URL":"https:\/\/f1000research.com\/articles\/8-1566\/v1#referee-response-54678","order":1,"name":"referee-response-54678","label":"Referee Report","group":{"name":"article-reports","label":"Article Reports"}},{"value":"The author(s) declared that no grants were involved in supporting this work","order":2,"name":"grant-information","label":"Grant Information"},{"value":"This is an open access article distributed under the terms of the Creative Commons Attribution Licence, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.","order":0,"name":"copyright-info","label":"Copyright"}]}}