{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T15:54:16Z","timestamp":1753890856802,"version":"3.41.2"},"reference-count":38,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2022,4,27]],"date-time":"2022-04-27T00:00:00Z","timestamp":1651017600000},"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. Genet."],"abstract":"<jats:p><jats:bold>Background:<\/jats:bold> Trichohepatoenteric syndrome (THES) is a rare Mendelian autosomal recessive genetic disease characterized by intractable diarrhea, woolly hair, facial abnormality, immune dysfunction, and intrauterine growth restriction. THES mutations are found in the <jats:italic>TTC37<\/jats:italic> and <jats:italic>SKIV2L<\/jats:italic> genes, which encode two components of the human superkiller (SKI) complex.<\/jats:p><jats:p><jats:bold>Methods and results:<\/jats:bold> We report one case of a 32-year-old woman of Chinese descent with THES, who was born with a low weight (2000\u00a0g). She had intractable diarrhea during the neonatal period and was allergic to cow\u2019s milk and condensed milk, but did not require total parenteral nutrition. She experienced menarche at age 12\u2009and amenorrhea at age 28. In May 2019, the patient presented with a left fibular head fracture and was diagnosed with osteoporosis. Genetic testing showed a novel mutation in exon1 [p.E5Afs\u221737 (c.12_13del)] of <jats:italic>SKIV2L<\/jats:italic>, which is composed of 28 exons. After the diagnosis, hormone replacement therapy was prescribed, in addition to the routine calcium and vitamin D supplements.<\/jats:p><jats:p><jats:bold>Conclusion:<\/jats:bold> This case expands the clinical characteristic and phenotype spectrum of THES, providing further understanding of <jats:italic>SKIV2L<\/jats:italic> and its autoimmune influence.<\/jats:p>","DOI":"10.3389\/fgene.2022.879899","type":"journal-article","created":{"date-parts":[[2022,4,27]],"date-time":"2022-04-27T06:39:37Z","timestamp":1651041577000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":4,"title":["Case Report: A Novel Homozygous Frameshift Mutation of the SKIV2L Gene in a Trichohepatoenteric Syndrome Patient Presenting With Short Stature, Premature Ovarian Failure, and Osteoporosis"],"prefix":"10.3389","volume":"13","author":[{"given":"Minyi","family":"Yang","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yu","family":"Jiang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xinyu","family":"Shao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2022,4,27]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"135","DOI":"10.1152\/physrev.00033.2015","article-title":"Estrogens and Androgens in Skeletal Physiology and Pathophysiology","volume":"97","author":"Almeida","year":"2017","journal-title":"Physiol. Rev."},{"key":"B2","doi-asserted-by":"publisher","first-page":"55","DOI":"10.1186\/s13045-015-0154-0","article-title":"Mutation Analysis of Chinese Sporadic Congenital Sideroblastic Anemia by Targeted Capture Sequencing","volume":"8","author":"An","year":"2015","journal-title":"J. Hematol. Oncol."},{"key":"B3","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1002\/0471250953.bi1110s43","article-title":"From FastQ Data to High\u2010Confidence Variant Calls: The Genome Analysis Toolkit Best Practices Pipeline","volume":"43","author":"Auwera","year":"2013","journal-title":"Curr. Protoc. Bioinformatics"},{"key":"B4","doi-asserted-by":"publisher","first-page":"9","DOI":"10.1186\/1750-1172-1-9","article-title":"Premature Ovarian Failure","volume":"1","author":"Beck-Peccoz","year":"2006","journal-title":"Orphanet J. Rare Dis."},{"key":"B5","doi-asserted-by":"publisher","first-page":"10480","DOI":"10.1038\/s41598-017-09654-8","article-title":"Modeling Protein Quaternary Structure of Homo- and Hetero-Oligomers beyond Binary Interactions by Homology","volume":"7","author":"Bertoni","year":"2017","journal-title":"Sci. Rep."},{"key":"B6","doi-asserted-by":"publisher","first-page":"D313","DOI":"10.1093\/nar\/gkw1132","article-title":"The SWISS-MODEL Repository-New Features and Functionality","volume":"45","author":"Bienert","year":"2017","journal-title":"Nucleic Acids Res."},{"key":"B7","doi-asserted-by":"publisher","first-page":"774","DOI":"10.1002\/humu.23418","article-title":"Tricho-Hepato-Enteric Syndrome Mutation Update: Mutations Spectrum of TTC37 and SKIV2L , Clinical Analysis and Future Prospects","volume":"39","author":"Bourgeois","year":"2018","journal-title":"Hum. Mutat."},{"key":"B8","doi-asserted-by":"publisher","first-page":"308","DOI":"10.3760\/cma.j.issn.0578-1310.2017.04.015","article-title":"A Case of Tricho-Hepato-Enteric Syndrome","volume":"55","author":"Chen","year":"2017","journal-title":"Zhonghua Er Ke Za Zhi"},{"key":"B9","doi-asserted-by":"publisher","first-page":"1405","DOI":"10.1007\/s00431-015-2563-z","article-title":"Tricho-hepato-enteric Syndrome (THE-S): Two Cases and Review of the Literature","volume":"174","author":"Chong","year":"2015","journal-title":"Eur. J. Pediatr."},{"key":"B10","doi-asserted-by":"publisher","first-page":"839","DOI":"10.1038\/ni.2948","article-title":"The SKIV2L RNA Exosome Limits Activation of the RIG-I-like Receptors","volume":"15","author":"Eckard","year":"2014","journal-title":"Nat. Immunol."},{"key":"B11","doi-asserted-by":"publisher","first-page":"926","DOI":"10.1093\/humrep\/dew027","article-title":"ESHRE Guideline: Management of Women with Premature Ovarian Insufficiency","volume":"31","author":"European Society for Human","year":"2016","journal-title":"Hum. Reprod."},{"key":"B12","doi-asserted-by":"publisher","first-page":"8","DOI":"10.5582\/irdr.3.8","article-title":"Human Mendelian Diseases Related to Abnormalities of the RNA Exosome or its Cofactors","volume":"3","author":"Fabre","year":"2014","journal-title":"Irdr"},{"key":"B13","first-page":"1","article-title":"Trichohepatoenteric Syndrome","volume-title":"GeneReviews","author":"Fabre","year":"2018"},{"key":"B14","doi-asserted-by":"publisher","first-page":"152","DOI":"10.5582\/irdr.2017.01040","article-title":"Management of Syndromic Diarrhea\/tricho-Hepato-Enteric Syndrome: A Review of the Literature","volume":"6","author":"Fabre","year":"2017","journal-title":"Irdr"},{"key":"B15","doi-asserted-by":"publisher","first-page":"689","DOI":"10.1016\/j.ajhg.2012.02.009","article-title":"SKIV2L Mutations Cause Syndromic Diarrhea, or Trichohepatoenteric Syndrome","volume":"90","author":"Fabre","year":"2012","journal-title":"Am. J. Hum. Genet."},{"key":"B16","doi-asserted-by":"publisher","first-page":"1729","DOI":"10.1007\/s00018-019-03028-1","article-title":"Establishment and Depletion of the Ovarian reserve: Physiology and Impact of Environmental Chemicals","volume":"76","author":"Ge","year":"2019","journal-title":"Cell. Mol. Life Sci."},{"key":"B38","doi-asserted-by":"publisher","first-page":"36","DOI":"10.1016\/s0022-3476(94)70118-0","article-title":"Intractable Infant Diarrhea Associated With Phenotypic Abnormalities and Immunodeficiency","volume":"125","author":"Girault","year":"1994","journal-title":"J. Pediatr."},{"key":"B17","doi-asserted-by":"publisher","first-page":"S162","DOI":"10.1002\/elps.200900140","article-title":"Automated Comparative Protein Structure Modeling with SWISS-MODEL and Swiss-PdbViewer: a Historical Perspective","volume":"30","author":"Guex","year":"2009","journal-title":"Electrophoresis"},{"key":"B18","doi-asserted-by":"publisher","first-page":"2388","DOI":"10.1053\/j.gastro.2010.02.010","article-title":"Mutations in TTC37 Cause Trichohepatoenteric Syndrome (Phenotypic Diarrhea of Infancy)","volume":"138","author":"Hartley","year":"2010","journal-title":"Gastroenterology"},{"key":"B19","doi-asserted-by":"publisher","first-page":"684","DOI":"10.3389\/fphar.2019.00684","article-title":"mTORC1 Activation in Osteoclasts Prevents Bone Loss in a Mouse Model of Osteoporosis","volume":"10","author":"Hiraiwa","year":"2019","journal-title":"Front. Pharmacol."},{"key":"B20","doi-asserted-by":"publisher","first-page":"396","DOI":"10.18176\/jiaci.0418","article-title":"A Novel TTC37 Mutation Causing Clinical Symptoms of Trichohepatoenteric Syndrome Such as Pyoderma Gangrenosum and Immunodeficiency without Severe Diarrhea","volume":"29","author":"Karaca Edeer","year":"2019","journal-title":"J. Investig. Allergol. Clin. Immunol."},{"key":"B21","doi-asserted-by":"publisher","first-page":"1138","DOI":"10.1089\/cmb.2017.0096","article-title":"cutPrimers: A New Tool for Accurate Cutting of Primers from Reads of Targeted Next Generation Sequencing","volume":"24","author":"Kechin","year":"2017","journal-title":"J. Comput. Biol."},{"key":"B22","doi-asserted-by":"publisher","first-page":"756","DOI":"10.1016\/j.molcel.2022.01.009","article-title":"The Human SKI Complex Regulates Channeling of Ribosome-Bound RNA to the Exosome via an Intrinsic Gatekeeping Mechanism","volume":"82","author":"K\u00f6gel","year":"2022","journal-title":"Mol. Cel."},{"key":"B23","doi-asserted-by":"publisher","first-page":"e2918","DOI":"10.1097\/MD.0000000000002918","article-title":"Identifying Mutations of the Tetratricopeptide Repeat Domain 37 (TTC37) Gene in Infants with Intractable Diarrhea and a Comparison of Asian and Non-asian Phenotype and Genotype","volume":"95","author":"Lee","year":"","journal-title":"Medicine (Baltimore)"},{"key":"B24","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1016\/j.gene.2016.03.049","article-title":"Novel Mutations in SKIV2L and TTC37 Genes in Malaysian Children with Trichohepatoenteric Syndrome","volume":"586","author":"Lee","year":"","journal-title":"Gene"},{"key":"B25","doi-asserted-by":"publisher","first-page":"1754","DOI":"10.1093\/bioinformatics\/btp324","article-title":"Fast and Accurate Short Read Alignment with Burrows-Wheeler Transform","volume":"25","author":"Li","year":"2009","journal-title":"Bioinformatics"},{"key":"B26","doi-asserted-by":"publisher","first-page":"8743","DOI":"10.1002\/jcb.27470","article-title":"Osteocyte\u2010intrinsic mTORC1 Signaling Restrains Trabecular Bone Accrual in Mice","volume":"119","author":"Liu","year":"2018","journal-title":"J. Cel. Biochem."},{"key":"B27","doi-asserted-by":"publisher","first-page":"110","DOI":"10.1016\/j.gene.2019.02.059","article-title":"Tricho-hepatic-enteric Syndrome (THES) without Intractable Diarrhoea","volume":"699","author":"Poulton","year":"2019","journal-title":"Gene"},{"key":"B28","doi-asserted-by":"publisher","first-page":"3318","DOI":"10.1172\/JCI27071","article-title":"Pathogenesis of Osteoporosis: Concepts, Conflicts, and Prospects","volume":"115","author":"Raisz","year":"2005","journal-title":"J. Clin. Invest."},{"key":"B29","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and Guidelines for the Interpretation of Sequence Variants: a Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet. Med."},{"key":"B30","doi-asserted-by":"publisher","first-page":"2","DOI":"10.3389\/fped.2015.00002","article-title":"Novel TTC37 Mutations in a Patient with Immunodeficiency without Diarrhea: Extending the Phenotype of Trichohepatoenteric Syndrome","volume":"3","author":"Rider","year":"2015","journal-title":"Front. Pediatr."},{"key":"B31","doi-asserted-by":"publisher","first-page":"212","DOI":"10.1136\/adc.57.3.212","article-title":"Unexplained Diarrhoea and Failure to Thrive in 2 Siblings with Unusual Facies and Abnormal Scalp Hair Shafts: a New Syndrome","volume":"57","author":"Stankler","year":"1982","journal-title":"Arch. Dis. Child."},{"key":"B32","doi-asserted-by":"publisher","first-page":"1765","DOI":"10.1093\/bioinformatics\/btz828","article-title":"QMEANDisCo-Distance Constraints Applied on Model Quality Estimation","volume":"36","author":"Studer","year":"2020","journal-title":"Bioinformatics"},{"key":"B33","doi-asserted-by":"publisher","first-page":"e164","DOI":"10.1093\/nar\/gkq603","article-title":"ANNOVAR: Functional Annotation of Genetic Variants from High-Throughput Sequencing Data","volume":"38","author":"Wang","year":"2010","journal-title":"Nucleic Acids Res."},{"key":"B34","doi-asserted-by":"publisher","first-page":"W296","DOI":"10.1093\/nar\/gky427","article-title":"SWISS-MODEL: Homology Modelling of Protein Structures and Complexes","volume":"46","author":"Waterhouse","year":"2018","journal-title":"Nucleic Acids Res."},{"key":"B35","doi-asserted-by":"publisher","DOI":"10.1172\/JCI146176","article-title":"Cytoplasmic RNA Quality Control Failure Engages mTORC1-Mediated Autoinflammatory Disease","volume":"132","author":"Yang","year":"2022","journal-title":"J. Clin. Invest."},{"key":"B36","doi-asserted-by":"publisher","first-page":"756451","DOI":"10.3389\/fgene.2021.756451","article-title":"Case Report: Novel Compound-Heterozygous Variants of SKIV2L Gene that Cause Trichohepatoenteric Syndrome 2","volume":"12","author":"Zhang","year":"2021","journal-title":"Front. Genet."},{"key":"B37","doi-asserted-by":"publisher","first-page":"2107","DOI":"10.3892\/mmr.2016.5503","article-title":"Targeted Next-Generation Sequencing Identification of a Novel Missense Mutation of the SKIV2L Gene in a Patient with Trichohepatoenteric Syndrome","volume":"14","author":"Zheng","year":"2016","journal-title":"Mol. Med. Rep."}],"container-title":["Frontiers in Genetics"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fgene.2022.879899\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,4,27]],"date-time":"2022-04-27T06:39:41Z","timestamp":1651041581000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fgene.2022.879899\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,4,27]]},"references-count":38,"alternative-id":["10.3389\/fgene.2022.879899"],"URL":"https:\/\/doi.org\/10.3389\/fgene.2022.879899","relation":{},"ISSN":["1664-8021"],"issn-type":[{"type":"electronic","value":"1664-8021"}],"subject":[],"published":{"date-parts":[[2022,4,27]]},"article-number":"879899"}}