{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,26]],"date-time":"2026-03-26T16:27:59Z","timestamp":1774542479076,"version":"3.50.1"},"reference-count":16,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2023,2,16]],"date-time":"2023-02-16T00:00:00Z","timestamp":1676505600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2023,2,16]],"date-time":"2023-02-16T00:00:00Z","timestamp":1676505600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Med Genomics"],"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      Rubinstein\u2013Taybi syndrome (RSTS) is an extremely rare autosomal dominant inheritable disorder caused by\n                      <jats:italic>CREBBP<\/jats:italic>\n                      and\n                      <jats:italic>EP300<\/jats:italic>\n                      mutations, while atypical RSTS harbouring variant from the same genes but not obvious resembling RSTS. There are only a few cases of Menke\u2013Hennekam syndrome (MKHK) with variant of exon 30 or 31 of\n                      <jats:italic>CREBBP<\/jats:italic>\n                      or\n                      <jats:italic>EP300<\/jats:italic>\n                      gene have been reported that not resembling RSTS recent years. Atypical RSTS cannot be accurately classified as MKHK, nor is it easy to identify the obvious classic characteristics of RSTS. The clinical manifestations and genetic variation of atypical RSTS are not fully understood.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Case presentation<\/jats:title>\n                    <jats:p>\n                      We present a Chinese core family with a girl had recurrent respiratory tract infection and developmental delay. The patient with language and motor mild development retardation, she has slight abnormal facial features, mild hirsutism and post-axial hexadactylia of left foot. Her cisterna magna is enlarged to connect with the fourth ventricle, and the ventricular system is enlarged. She has a malacia beside the posterior horn of the left lateral ventricle. The patient has primary low immunoglobulin G and A, but her level of immunoglobulin M content in blood is normal. The patient harbors a novel heterozygous frameshift variant of c.2499dupG in exon 14 of\n                      <jats:italic>EP300<\/jats:italic>\n                      gene, that it is proved to de novo origin. The mutation is judged to be a pathogenic mutation, and it has high-grade pathogenic evidence.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>\n                      The clinical and genetic evaluation of this case corroborates that clinical features caused by c.2499dupG in exon 14 of\n                      <jats:italic>EP300<\/jats:italic>\n                      are less marked than RSTS2 patient although it is difficult to establish an accurate genotype\u2013phenotype correlation. Our additional case also helps to deepen the clinical and genetic spectrum in this disorder. The case provides a novel mutation of\n                      <jats:italic>EP300<\/jats:italic>\n                      and enriches the phenotypes related with the gene. We have contributed new variation and disease information for guardians and doctors to broaden the knowledge about\n                      <jats:italic>EP300<\/jats:italic>\n                      -RSTS genotype and phenotype, this may contribute to ameliorate the health management of patients and improve the genetic counseling to the families.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1186\/s12920-022-01424-4","type":"journal-article","created":{"date-parts":[[2023,2,16]],"date-time":"2023-02-16T05:03:08Z","timestamp":1676523788000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Case report: a Chinese girl like atypical Rubinstein\u2013Taybi syndrome caused by a novel heterozygous mutation of the EP300 gene"],"prefix":"10.1186","volume":"16","author":[{"given":"Zhouxian","family":"Bai","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gaopan","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiangdong","family":"Kong","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2023,2,16]]},"reference":[{"issue":"9","key":"1424_CR1","doi-asserted-by":"publisher","first-page":"981","DOI":"10.1038\/sj.ejhg.5201594","volume":"14","author":"RC Hennekam","year":"2006","unstructured":"Hennekam RC. Rubinstein\u2013Taybi syndrome. Eur J Hum Genet. 2006;14(9):981\u20135.","journal-title":"Eur J Hum Genet"},{"key":"1424_CR2","doi-asserted-by":"publisher","first-page":"588","DOI":"10.1001\/archpedi.1963.02080040590010","volume":"105","author":"JH Rubinstein","year":"1963","unstructured":"Rubinstein JH, Taybi H. Broad thumbs and toes and facial abnormalities. A possible mental retardation syndrome. Am J Dis Child. 1963;105:588\u2013608.","journal-title":"Am J Dis Child"},{"issue":"2","key":"1424_CR3","doi-asserted-by":"publisher","first-page":"148","DOI":"10.1111\/cge.12348","volume":"87","author":"G Negri","year":"2015","unstructured":"Negri G, et al. Clinical and molecular characterization of Rubinstein\u2013Taybi syndrome patients carrying distinct novel mutations of the EP300 gene. 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The Medical Ethics Committee of the First Affiliated Hospital of Zhengzhou University authorized our team to access the clinical patient data used in this research. The patient and her parents consented to participate in this study, and written INFORMED CONSENT was obtained.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Written informed consent for publication of clinical details and\/or clinical images was obtained from the parents of juvenile patient.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare that they have no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"24"}}