{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,21]],"date-time":"2026-09-21T22:35:50Z","timestamp":1790030150989,"version":"4.0.1"},"reference-count":12,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2024,2,8]],"date-time":"2024-02-08T00:00:00Z","timestamp":1707350400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2024,5]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    The RREB1 is a zinc finger transcription factor that plays a role in regulating gene expression and inactivating MAPK signalling components. To date, no pathogenic variant in the\n                    <jats:italic>RREB1<\/jats:italic>\n                    gene has been associated with any disease, but several cases of 6p terminal deletions affecting the\n                    <jats:italic>RREB1<\/jats:italic>\n                    gene have been reported. In this study, we report the first case of\n                    <jats:italic>RREB1<\/jats:italic>\n                    \u2010associated Noonan\u2010like\u00a0RASopathy\u00a0caused by a pathogenic variant within this gene. Genetic testing included whole\u2010genome sequencing (WGS) of the proband and Sanger sequencing of the proband, his parents, and his sibling. The proband had a de novo c.2677del, p.(Ala893Argfs*20) variant, likely resulting in\n                    <jats:italic>RREB1<\/jats:italic>\n                    haploinsufficiency. Comparative analysis of patients with microdeletions, including in the\n                    <jats:italic>RREB1<\/jats:italic>\n                    gene, confirmed shared clinical traits while highlighting unique features, such as blue sclerae and absence of cardiac anomalies. This study reinforces previous data on\n                    <jats:italic>RREB1<\/jats:italic>\n                    haploinsufficiency as the driver of a new Noonan\u2010like RASopathy variant, which includes intellectual disability, delayed motor skills, short stature, short neck, and distinctive facial dysmorphisms as key clinical indicators. These findings shed light on this\n                    <jats:italic>RREB1<\/jats:italic>\n                    \u2010related syndrome and underscore the necessity for further investigation into the functional consequences of\n                    <jats:italic>RREB1<\/jats:italic>\n                    mutations.\n                  <\/jats:p>","DOI":"10.1111\/cge.14496","type":"journal-article","created":{"date-parts":[[2024,2,8]],"date-time":"2024-02-08T22:11:14Z","timestamp":1707430274000},"page":"573-580","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["The first case of a point pathogenic variant in the\n                    <i>RREB1<\/i>\n                    gene in Noonan\u2010like Rasopathy"],"prefix":"10.1111","volume":"105","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0351-1271","authenticated-orcid":false,"given":"Olga","family":"Shatokhina","sequence":"first","affiliation":[{"name":"The Shared Resource Centre \u201cGenome\u201d Federal State Budgetary Institution \u201cResearch Centre For Medical Genetics\u201d  Moscow Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fatima","family":"Bostanova","sequence":"additional","affiliation":[{"name":"The Shared Resource Centre \u201cGenome\u201d Federal State Budgetary Institution \u201cResearch Centre For Medical Genetics\u201d  Moscow Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Bulakh","sequence":"additional","affiliation":[{"name":"The Shared Resource Centre \u201cGenome\u201d Federal State Budgetary Institution \u201cResearch Centre For Medical Genetics\u201d  Moscow Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anastasia","family":"Beresneva","sequence":"additional","affiliation":[{"name":"The Scientific and Medical Department LLC \u201cEvogen\u201d  Moscow Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Oxana","family":"Ryzhkova","sequence":"additional","affiliation":[{"name":"The Shared Resource Centre \u201cGenome\u201d Federal State Budgetary Institution \u201cResearch Centre For Medical Genetics\u201d  Moscow Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2024,2,8]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140\u20106736(12)61023\u2010X"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.32015"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1349\u20107006.2009.01257.x"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrc2109"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1324128111"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004390050911"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201194"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1097\/MCD.0b013e32835b6e39"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12920\u2010015\u20100113\u20101"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41467\u2010020\u201018483\u20109"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1997.5001"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"}],"container-title":["Clinical 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