{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,3]],"date-time":"2026-06-03T17:06:32Z","timestamp":1780506392109,"version":"3.54.1"},"reference-count":11,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2022,1,29]],"date-time":"2022-01-29T00:00:00Z","timestamp":1643414400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2022,1,29]],"date-time":"2022-01-29T00:00:00Z","timestamp":1643414400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/501100003453","name":"natural science foundation of guangdong province","doi-asserted-by":"publisher","award":["2019A1515011302"],"award-info":[{"award-number":["2019A1515011302"]}],"id":[{"id":"10.13039\/501100003453","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"national natural science foundation of china","doi-asserted-by":"publisher","award":["32070582"],"award-info":[{"award-number":["32070582"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Med Genomics"],"published-print":{"date-parts":[[2022,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n                <jats:title>Background<\/jats:title>\n                <jats:p>Roberts syndrome (RBS) is a rare autosomal recessive disorder caused by variations in the <jats:italic>ESCO2<\/jats:italic> gene; however, prenatal diagnosis of RBS has never been reported in Chinese families. Additionally, fetal-specific phenotypic characteristics associated with <jats:italic>ESCO2<\/jats:italic> variants have not been reported.\n<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Case presentation<\/jats:title>\n                <jats:p>A fetus in a healthy, nonconsanguineous Chinese family with multiple serious congenital malformations was diagnosed prenatally. Two consecutive fetuses in this family presented with tetraphocomelia, growth restriction, cleft lip and palate bilaterally, and other abnormalities. The main phenotypic characteristics of this case were strongly suspected to be associated with RBS. Finally, whole exome sequence analysis revealed the insertion of a homozygous base pair in exon 6 of the <jats:italic>ESCO2<\/jats:italic> gene (NM_001017420.3, c.1111insA, NP_001017420.1, p.Thr371fs). Both of the couples were heterozygous carriers for this variant.\n<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusion<\/jats:title>\n                <jats:p>We are the first to report a prenatal case of RBS diagnosed in a Chinese family. Here, we have confirmed that the rare variant is a definite pathogenic variant, and we provide detailed phenotypic characteristics for the prenatal diagnosis of RBS due to this causative variant.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s12920-022-01161-8","type":"journal-article","created":{"date-parts":[[2022,1,29]],"date-time":"2022-01-29T10:03:38Z","timestamp":1643450618000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Prenatal diagnosis of Roberts syndrome in a Chinese family based on ultrasound findings and whole exome sequencing: a case report"],"prefix":"10.1186","volume":"15","author":[{"given":"LiFen","family":"Zhu","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"DingYa","family":"Cao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Min","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Huimin","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"XiaoFang","family":"Sun","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2536-9176","authenticated-orcid":false,"given":"WeiQiang","family":"Liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2022,1,29]]},"reference":[{"key":"1161_CR1","volume-title":"GeneReviews((R))","author":"H Vega","year":"1993","unstructured":"Vega H, Gordillo M, Jabs EW. ESCO2 spectrum disorder. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mirzaa G, Amemiya A, editors. GeneReviews((R)). Seattle: University of Washington; 1993."},{"issue":"1","key":"1161_CR2","doi-asserted-by":"publisher","first-page":"58","DOI":"10.1055\/s-0039-1696636","volume":"9","author":"CB da Costa Almeida","year":"2020","unstructured":"da Costa Almeida CB, Welter AT, Abech GD, Brandao GR, Flores JAM, Schule B, Francke U, Fiegenbaum M, Zen PRG, Rosa RFM. Report of the phenotype of a patient with Roberts syndrome and a rare ESCO2 variant. J Pediatr Genet. 2020;9(1):58\u201362.","journal-title":"J Pediatr Genet"},{"issue":"2","key":"1161_CR3","first-page":"1702","volume":"15","author":"J Zhou","year":"2018","unstructured":"Zhou J, Yang X, Jin X, Jia Z, Lu H, Qi Z. Long-term survival after corrective surgeries in two patients with severe deformities due to Roberts syndrome: a case report and review of the literature. Exp Ther Med. 2018;15(2):1702\u201311.","journal-title":"Exp Ther Med"},{"issue":"5","key":"1161_CR4","doi-asserted-by":"publisher","first-page":"468","DOI":"10.1038\/ng1548","volume":"37","author":"H Vega","year":"2005","unstructured":"Vega H, Waisfisz Q, Gordillo M, Sakai N, Yanagihara I, Yamada M, van Gosliga D, Kayserili H, Xu C, Ozono K, et al. Roberts syndrome is caused by mutations in ESCO2, a human homolog of yeast ECO1 that is essential for the establishment of sister chromatid cohesion. Nat Genet. 2005;37(5):468\u201370.","journal-title":"Nat Genet"},{"issue":"2","key":"1161_CR5","doi-asserted-by":"publisher","first-page":"472","DOI":"10.1002\/ajmg.a.33261","volume":"152a","author":"ES Goh","year":"2010","unstructured":"Goh ES, Li C, Horsburgh S, Kasai Y, Kolomietz E, Morel CF. The Roberts syndrome\/SC phocomelia spectrum\u2014a case report of an adult with review of the literature. Am J Med Genet Part A. 2010;152a(2):472\u20138.","journal-title":"Am J Med Genet Part A"},{"issue":"11","key":"1161_CR6","doi-asserted-by":"publisher","first-page":"2793","DOI":"10.1002\/ajmg.a.61826","volume":"182","author":"PE Schneeberger","year":"2020","unstructured":"Schneeberger PE, Nayak SS, Fuchs S, Kutsche K, Girisha KM. Roberts syndrome in an Indian patient with humeroradial synostosis, congenital elbow contractures and a novel homozygous splice variant in ESCO2. Am J Med Genet A. 2020;182(11):2793\u20136.","journal-title":"Am J Med Genet A"},{"key":"1161_CR7","doi-asserted-by":"publisher","first-page":"525","DOI":"10.1146\/annurev-genet-102108-134233","volume":"43","author":"K Nasmyth","year":"2009","unstructured":"Nasmyth K, Haering CH. Cohesin: its roles and mechanisms. Annu Rev Genet. 2009;43:525\u201358.","journal-title":"Annu Rev Genet"},{"issue":"4","key":"1161_CR8","doi-asserted-by":"publisher","first-page":"154","DOI":"10.1111\/cga.12151","volume":"56","author":"HH Afifi","year":"2016","unstructured":"Afifi HH, Abdel-Salam GM, Eid MM, Tosson AM, Shousha WG, Abdel Azeem AA, Farag MK, Mehrez MI, Gaber KR. Expanding the mutation and clinical spectrum of Roberts syndrome. Congenit Anom. 2016;56(4):154\u201362.","journal-title":"Congenit Anom"},{"issue":"1","key":"1161_CR9","doi-asserted-by":"publisher","first-page":"30","DOI":"10.1136\/jmg.2009.068395","volume":"47","author":"H Vega","year":"2010","unstructured":"Vega H, Trainer AH, Gordillo M, Crosier M, Kayserili H, Skovby F, Uzielli ML, Schnur RE, Manouvrier S, Blair E, et al. Phenotypic variability in 49 cases of ESCO2 mutations, including novel missense and codon deletion in the acetyltransferase domain, correlates with ESCO2 expression and establishes the clinical criteria for Roberts syndrome. J Med Genet. 2010;47(1):30\u20137.","journal-title":"J Med Genet"},{"issue":"5","key":"1161_CR10","first-page":"405","volume":"17","author":"S Richards","year":"2015","unstructured":"Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, et al. 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. Genet Med Off J Am Coll Med Genet. 2015;17(5):405\u201324.","journal-title":"Genet Med Off J Am Coll Med Genet"},{"issue":"8","key":"1161_CR11","first-page":"941","volume":"8","author":"SM Percival","year":"2015","unstructured":"Percival SM, Thomas HR, Amsterdam A, Carroll AJ, Lees JA, Yost HJ, Parant JM. Variations in dysfunction of sister chromatid cohesion in esco2 mutant zebrafish reflect the phenotypic diversity of Roberts syndrome. Dis Model Mech. 2015;8(8):941\u201355.","journal-title":"Dis Model Mech"}],"container-title":["BMC Medical Genomics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s12920-022-01161-8.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s12920-022-01161-8\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s12920-022-01161-8.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,1,29]],"date-time":"2022-01-29T10:03:59Z","timestamp":1643450639000},"score":1,"resource":{"primary":{"URL":"https:\/\/bmcmedgenomics.biomedcentral.com\/articles\/10.1186\/s12920-022-01161-8"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,1,29]]},"references-count":11,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2022,12]]}},"alternative-id":["1161"],"URL":"https:\/\/doi.org\/10.1186\/s12920-022-01161-8","relation":{},"ISSN":["1755-8794"],"issn-type":[{"value":"1755-8794","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,1,29]]},"assertion":[{"value":"4 July 2021","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"7 January 2022","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"29 January 2022","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"Written informed consent was obtained from the patient and her husband. The study was approved by the Ethics Committee of the Third Affiliated Hospital of Guangzhou Medical University (No: 2021043).","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Written consent for publication was obtained from the patient and her husband for publication of this study and its copy is available for the journal. These materials include characteristic phenotypic images, personal information, genetic testing results and other related data used in this report.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors report no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"16"}}