{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,12]],"date-time":"2026-05-12T15:28:57Z","timestamp":1778599737700,"version":"3.51.4"},"reference-count":15,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2022,4,8]],"date-time":"2022-04-08T00:00:00Z","timestamp":1649376000000},"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> Musculocontractural Ehlers\u2013Danlos syndrome (mcEDS) is a rare heritable connective tissue disease with various symptoms. The diagnosis of mcEDS is difficult because of the large overlap of clinical symptoms between different EDS subtypes.<\/jats:p><jats:p><jats:bold>Methods:<\/jats:bold> We performed karyotype analysis, gene copy number variation detection, whole-exome sequencing, and Sanger sequencing to reveal the underlying genetic etiology of a fetus with structural abnormalities in feet and kidneys.<\/jats:p><jats:p><jats:bold>Results:<\/jats:bold> A likely pathogenic mutation [NM_130468.3 c.958C&amp;gt;T (p.Arg320*)] and an uncertain significance mutation [NM_130468.3 c.896A&amp;gt;G (p.Tyr299Cys)] were identified in the carbohydrate sulfotransferase 14 (<jats:italic>CHST14<\/jats:italic>) gene by whole-exome sequencing and validated by Sanger sequencing.<\/jats:p><jats:p><jats:bold>Conclusion:<\/jats:bold> The two identified mutations appear highly likely to be the genetic causes of the fetal structural abnormalities.<\/jats:p>","DOI":"10.3389\/fgene.2022.853907","type":"journal-article","created":{"date-parts":[[2022,4,8]],"date-time":"2022-04-08T07:31:02Z","timestamp":1649403062000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":4,"title":["Case Report: A Novel Mutation Identified in CHST14 Gene in a Fetus With Structural Abnormalities"],"prefix":"10.3389","volume":"13","author":[{"given":"Yuan-Yuan","family":"Zhou","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yu-Fang","family":"Du","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qing","family":"Lu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiu-Zhang","family":"Zhai","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ming-Fang","family":"Shi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dan-Yun","family":"Chen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sun-Rong","family":"Liu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ying","family":"Zhong","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2022,4,8]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"581","DOI":"10.1002\/ajmg.1320290316","article-title":"International Nosology of Heritable Disorders of Connective Tissue, Berlin, 1986","volume":"29","author":"Beighton","year":"1988","journal-title":"Am. J. Med. Genet."},{"key":"B2","doi-asserted-by":"publisher","first-page":"31","DOI":"10.1002\/(sici)1096-8628(19980428)77:1<31::aid-ajmg8>3.0.co;2-o","article-title":"Ehlers-Danlos Syndromes: Revised Nosology, Villefranche, 1997. Ehlers-Danlos National Foundation (USA) and Ehlers-Danlos Support Group (UK)","volume":"77","author":"Beighton","year":"1998","journal-title":"Am. J. Med. Genet."},{"key":"B3","doi-asserted-by":"publisher","first-page":"873","DOI":"10.1016\/j.ajhg.2009.11.010","article-title":"Loss of Dermatan-4-Sulfotransferase 1 Function Results in Adducted Thumb-Clubfoot Syndrome","volume":"85","author":"D\u00fcndar","year":"2009","journal-title":"Am. J. Hum. Genet."},{"key":"B4","doi-asserted-by":"publisher","first-page":"6","DOI":"10.1002\/pd.5195","article-title":"Joint Position Statement from the International Society for Prenatal Diagnosis (ISPD), the Society for Maternal Fetal Medicine (SMFM), and the Perinatal Quality Foundation (PQF) on the Use of Genome-wide Sequencing for Fetal Diagnosis","volume":"38","year":"2018","journal-title":"Prenat Diagn."},{"key":"B5","doi-asserted-by":"publisher","first-page":"747","DOI":"10.1016\/S0140-6736(18)31940-8","article-title":"Prenatal Exome Sequencing Analysis in Fetal Structural Anomalies Detected by Ultrasonography (PAGE): a Cohort Study","volume":"393","author":"Lord","year":"2019","journal-title":"Lancet"},{"key":"B6","doi-asserted-by":"publisher","first-page":"1233","DOI":"10.1002\/humu.21355","article-title":"Musculocontractural Ehlers-Danlos Syndrome (Former EDS Type VIB) and Adducted Thumb Clubfoot Syndrome (ATCS) Represent a Single Clinical Entity Caused by Mutations in the Dermatan-4-Sulfotransferase 1 Encoding CHST14 Gene","volume":"31","author":"Malfait","year":"2010","journal-title":"Hum. Mutat."},{"key":"B7","doi-asserted-by":"publisher","first-page":"8","DOI":"10.1002\/ajmg.c.31552","article-title":"The 2017 International Classification of the Ehlers-Danlos Syndromes","volume":"175","author":"Malfait","year":"2017","journal-title":"Am. J. Med. Genet. C Semin. Med. Genet."},{"key":"B8","doi-asserted-by":"publisher","first-page":"64","DOI":"10.1038\/s41572-020-0194-9","article-title":"The Ehlers-Danlos Syndromes","volume":"6","author":"Malfait","year":"2020","journal-title":"Nat. Rev. Dis. Primers"},{"key":"B9","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1136\/jmedgenet-2020-107623","article-title":"Clinical and Molecular Features of 66 Patients with Musculocontractural Ehlers\u2212Danlos Syndrome Caused by Pathogenic Variants in CHST14 (mcEDS-CHST14)","author":"Minatogawa","year":"2021","journal-title":"J. Med. Genet."},{"key":"B10","doi-asserted-by":"publisher","first-page":"966","DOI":"10.1002\/humu.21300","article-title":"Loss-of-function Mutations of CHST14 in a New Type of Ehlers-Danlos Syndrome","volume":"31","author":"Miyake","year":"2010","journal-title":"Hum. Mutat."},{"key":"B11","doi-asserted-by":"publisher","first-page":"j2563","DOI":"10.1136\/bmj.j2563","article-title":"Risk of Major Congenital Malformations in Relation to Maternal Overweight and Obesity Severity: Cohort Study of 1.2 Million Singletons","volume":"357","author":"Persson","year":"2017","journal-title":"BMJ"},{"key":"B12","doi-asserted-by":"publisher","first-page":"758","DOI":"10.1016\/S0140-6736(18)32042-7","article-title":"Whole-exome Sequencing in the Evaluation of Fetal Structural Anomalies: a Prospective Cohort Study","volume":"393","author":"Petrovski","year":"2019","journal-title":"Lancet"},{"key":"B13","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":"B14","doi-asserted-by":"publisher","first-page":"1107","DOI":"10.1056\/NEJMoa1908753","article-title":"Causal Genetic Variants in Stillbirth","volume":"383","author":"Stanley","year":"2020","journal-title":"N. Engl. J. Med."},{"key":"B15","doi-asserted-by":"publisher","first-page":"2175","DOI":"10.1056\/NEJMoa1203382","article-title":"Chromosomal Microarray versus Karyotyping for Prenatal Diagnosis","volume":"367","author":"Wapner","year":"2012","journal-title":"N. Engl. J. Med."}],"container-title":["Frontiers in Genetics"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fgene.2022.853907\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,4,8]],"date-time":"2022-04-08T07:31:07Z","timestamp":1649403067000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fgene.2022.853907\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,4,8]]},"references-count":15,"alternative-id":["10.3389\/fgene.2022.853907"],"URL":"https:\/\/doi.org\/10.3389\/fgene.2022.853907","relation":{},"ISSN":["1664-8021"],"issn-type":[{"value":"1664-8021","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,4,8]]},"article-number":"853907"}}