{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,16]],"date-time":"2026-05-16T18:29:40Z","timestamp":1778956180169,"version":"3.51.4"},"reference-count":10,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2021,10,1]],"date-time":"2021-10-01T00:00:00Z","timestamp":1633046400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Pediatr."],"abstract":"<jats:p>MEGDEL syndrome and <jats:italic>SATB2<\/jats:italic>-associated syndrome (SAS) are both rare congenital disorders with poor prognoses caused by gene mutations. We present the case of a 2-day-old girl with an unexplained abnormal liver function, feeding problem, and dystonia. Using next-generation sequencing, we identified two novel mutations in <jats:italic>SERAC1<\/jats:italic> and a mutation in <jats:italic>SATB2<\/jats:italic>. Now, she is 15 months old and has the characteristics of SAS, such as downslanting palpebral fissures and delayed primary dentition. Besides the typical phenotypes of MEGDEL syndrome, such as hypertonia, failure to thrive, deafness, and motor regression, she has progressive cholestasis and is prone to high serum lactate after rehabilitation training and hypoglycemia with low ketone under starving conditions. These phenotypes substantially differ from the transient liver function abnormalities and hypoglycemia reported in the literature.<\/jats:p>","DOI":"10.3389\/fped.2021.713458","type":"journal-article","created":{"date-parts":[[2021,10,1]],"date-time":"2021-10-01T07:48:56Z","timestamp":1633074536000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":2,"title":["Case Report: Progressive Cholestasis: Severe Phenotype of MEGDEL Syndrome With SATB2-Associated Syndrome"],"prefix":"10.3389","volume":"9","author":[{"given":"Yajie","family":"Su","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hui","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Huijun","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bingbing","family":"Wu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jiao","family":"Yang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wenhao","family":"Zhou","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Long","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2021,10,1]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"25","DOI":"10.1016\/j.pediatrneurol.2020.03.009","article-title":"MEGDEL syndrome","volume":"110","author":"Finsterer","year":"2020","journal-title":"Pediatr Neurol."},{"key":"B2","doi-asserted-by":"publisher","first-page":"797","DOI":"10.1038\/ng.2325","article-title":"Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness","volume":"44","author":"Wortmann","year":"2012","journal-title":"Nat Genet."},{"key":"B3","doi-asserted-by":"publisher","first-page":"327","DOI":"10.1002\/ajmg.a.38022","article-title":"SATB2-associated syndrome: mechanisms, phenotype, and practical recommendations","volume":"173","author":"Zarate","year":"2017","journal-title":"Am J Med Genet A."},{"key":"B4","doi-asserted-by":"publisher","first-page":"118","DOI":"10.3969\/j.issn.1673-5501.2018.02.008","article-title":"Evaluation of turn around time and diagnostic accuracy of the next generation sequencing data analysis pipeline version 2 of Children's Hospital of Fudan University","volume":"2","author":"Lin","year":"2018","journal-title":"Chinese J Evidence-Based Pediatr."},{"key":"B5","doi-asserted-by":"publisher","first-page":"300","DOI":"10.1016\/j.ymgme.2015.12.004","article-title":"Leigh syndrome: resolving the clinical and genetic heterogeneity paves the way for treatment options","volume":"117","author":"Gerards","year":"2016","journal-title":"Mol Genet Metab."},{"key":"B6","article-title":"SERAC1 deficiency","volume-title":"GeneReviews(\u00ae)","author":"Wortmann","year":"2020"},{"key":"B7","doi-asserted-by":"publisher","first-page":"805","DOI":"10.1016\/j.cmet.2015.05.014","article-title":"Acetyl coenzyme A: a central metabolite and second messenger","volume":"21","author":"Pietrocola","year":"2015","journal-title":"Cell Metab."},{"key":"B8","volume-title":"Biochemistry, Fatty Acid Oxidation. StatPearls","author":"Talley","year":"2021"},{"key":"B9","doi-asserted-by":"publisher","first-page":"39","DOI":"10.1136\/jmedgenet-2017-104622","article-title":"SERAC1 deficiency causes complicated HSP: evidence from a novel splice mutation in a large family","volume":"55","author":"Roeben","year":"2018","journal-title":"J Med Genet."},{"key":"B10","doi-asserted-by":"publisher","first-page":"1013","DOI":"10.1002\/humu.23771","article-title":"Mutation update for the SATB2 gene","volume":"40","author":"Zarate","year":"2019","journal-title":"Hum Mutat."}],"container-title":["Frontiers in Pediatrics"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fped.2021.713458\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,10,1]],"date-time":"2021-10-01T07:49:02Z","timestamp":1633074542000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fped.2021.713458\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,10,1]]},"references-count":10,"alternative-id":["10.3389\/fped.2021.713458"],"URL":"https:\/\/doi.org\/10.3389\/fped.2021.713458","relation":{},"ISSN":["2296-2360"],"issn-type":[{"value":"2296-2360","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,10,1]]},"article-number":"713458"}}