{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,4]],"date-time":"2026-08-04T10:08:02Z","timestamp":1785838082183,"version":"3.56.0"},"reference-count":13,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2020,12,23]],"date-time":"2020-12-23T00:00:00Z","timestamp":1608681600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100003819","name":"Natural Science Foundation of Hubei Province","doi-asserted-by":"publisher","award":["2017CFB322"],"award-info":[{"award-number":["2017CFB322"]}],"id":[{"id":"10.13039\/501100003819","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2021,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Gabriele\u2010de Vries syndrome (GADEVS), also known as\u00a0<jats:italic>YY1<\/jats:italic>\u00a0haploinsufficiency syndrome, is a very rare autosomal dominant neurodevelopmental disorder (NDD) due to\u00a0<jats:italic>YY1<\/jats:italic>\u00a0mutation characterized by mild\u2010to\u2010profound\u00a0developmental delay (DD)\/intellectual disability (ID), a wide spectrum of functional and morphologic abnormalities, and intrauterine growth restriction or low birth weight and feeding difficulties are common in the patients. However, NDDs, such as language development disorder and ID, could hardly be assessed in patients younger than 2\u00a0years old.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We describe a 9\u2010month\u2010old female with DD, failure to thrive,\u00a0and\u00a0facial dysmorphism.\u00a0Genetic analysis was conducted by\u00a0whole exome sequencing (WES)\u00a0and confirmed by Sanger sequencing.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>In addition to DD and dysmorphic facial features, this patient had urinary tract infection,\u00a0acute pyelonephritis, bilateral vesicoureteral reflux (grade III), gastroesophageal reflux, and malnutrition.\u00a0She was found to have\u00a0foramen ovale or atrial septal defect,\u00a0and enlarged left lateral ventricle\u00a0in the brain.\u00a0After performing\u00a0WES, a\u00a0novel heterozygous mutation NM_003403.5:c.1124G&gt;A, p.Arg375Gln in the\u00a0<jats:italic>YY1<\/jats:italic>\u00a0gene\u00a0was identified.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Our findings suggest that genetic tests are critical technique for diagnosis of\u00a0GADEVS, especially in patients with early\u2010childhood, unexplained developmental or growth disorders, thus, the prevalence of\u00a0GADEVS\u00a0may be underestimated. The clinical features and identified\u00a0<jats:italic>YY1<\/jats:italic>\u00a0mutation in our patient expand the spectra of phenotypes and genotypes of\u00a0GADEVS, respectively.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1582","type":"journal-article","created":{"date-parts":[[2020,12,24]],"date-time":"2020-12-24T16:06:46Z","timestamp":1608826006000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":14,"title":["A 9\u2010month\u2010old Chinese patient with Gabriele\u2010de Vries syndrome due to novel germline mutation in the <i>YY1<\/i> gene"],"prefix":"10.1002","volume":"9","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4987-5118","authenticated-orcid":false,"given":"Li","family":"Tan","sequence":"first","affiliation":[{"name":"Precision Medical Center Wuhan Children's Hospital (Wuhan Maternal and Child Healthcare Hospital) Tongji Medical College Huazhong University of Science &amp; Technology Wuhan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ying","family":"Li","sequence":"additional","affiliation":[{"name":"Radiology Department Wuhan Children's Hospital (Wuhan Maternal and Child Healthcare Hospital) Tongji Medical College Huazhong University of Science &amp; Technology Wuhan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fan","family":"Liu","sequence":"additional","affiliation":[{"name":"Radiology Department Wuhan Children's Hospital (Wuhan Maternal and Child Healthcare Hospital) Tongji Medical College Huazhong University of Science &amp; Technology Wuhan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yufeng","family":"Huang","sequence":"additional","affiliation":[{"name":"Precision Medical Center Wuhan Children's Hospital (Wuhan Maternal and Child Healthcare Hospital) Tongji Medical College Huazhong University of Science &amp; Technology Wuhan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sukun","family":"Luo","sequence":"additional","affiliation":[{"name":"Precision Medical Center Wuhan Children's Hospital (Wuhan Maternal and Child Healthcare Hospital) Tongji Medical College Huazhong University of Science &amp; Technology Wuhan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peiwei","family":"Zhao","sequence":"additional","affiliation":[{"name":"Precision Medical Center Wuhan Children's Hospital (Wuhan Maternal and Child Healthcare Hospital) Tongji Medical College Huazhong University of Science &amp; Technology Wuhan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Weiyue","family":"Gu","sequence":"additional","affiliation":[{"name":"Chigene (Beijing) Translational Medical Research Center Co., Ltd. Beijing P.R. China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jun","family":"Lin","sequence":"additional","affiliation":[{"name":"Rehabilitation Department Wuhan Children's Hospital (Wuhan Maternal and Child Healthcare Hospital) Tongji Medical College Huazhong University of Science &amp; Technology Wuhan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aifen","family":"Zhou","sequence":"additional","affiliation":[{"name":"Prenatal Diagnosis Center Wuhan Children's Hospital (Wuhan Maternal and Child Healthcare Hospital) Tongji Medical College Huazhong University of Science &amp; Technology Wuhan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xuelian","family":"He","sequence":"additional","affiliation":[{"name":"Precision Medical Center Wuhan Children's Hospital (Wuhan Maternal and Child Healthcare Hospital) Tongji Medical College Huazhong University of Science &amp; Technology Wuhan China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,12,23]]},"reference":[{"key":"e_1_2_12_2_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.270.50.30213"},{"key":"e_1_2_12_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/ncomms3810"},{"key":"e_1_2_12_4_1","doi-asserted-by":"crossref","unstructured":"De Vries B. 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