{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,15]],"date-time":"2026-07-15T10:13:56Z","timestamp":1784110436973,"version":"3.55.0"},"reference-count":16,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"3","license":[{"start":{"date-parts":[[2019,7,1]],"date-time":"2019-07-01T00:00:00Z","timestamp":1561939200000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2019,7]]},"abstract":"<jats:p>Rubinstein\u2013Taybi syndrome (RSTS) is a rare dominant disorder with intellectual disability, postnatal growth deficiency, and multiple congenital anomalies. Approximately 50\u201370% of the patients have a mutation in the <jats:italic toggle=\"yes\">CREBBP<\/jats:italic> gene (RSTS1) and 5\u201310% display an <jats:italic toggle=\"yes\">EP300<\/jats:italic> gene mutation (RSTS2). Craniospinal abnormalities such as microcranium, scoliosis, and lordosis are frequent findings in RSTS1, but malformations of the brain or spinal cord are seen only occasionally. Here, we report on a 3-year-old boy with facial abnormalities of RSTS, broad thumbs and halluces, developmental delay, autistic features, cerebellar underdevelopment, and a neural tube defect. Molecular diagnostic of the <jats:italic toggle=\"yes\">CREBBP<\/jats:italic> and <jats:italic toggle=\"yes\">EP300<\/jats:italic> genes showed a heterozygous 17-bp deletion (c.5698_5714del AAGGCAGCAGGCCAGGT) in exon 31 of the <jats:italic toggle=\"yes\">EP300<\/jats:italic> gene. Findings underline that small (hypoplastic) cerebellum and neural tube defects belong to the phenotypic spectrum not only of RSTS1 but also of RSTS2. Based on the literature and this observation, we recommend that each individual with RSTS2 should be closely evaluated for neural axis and craniovertebral junction anomalies, and where appropriate, neuroimaging studies should be considered. Our frequency estimate of ~\u20096% occult or overt neural tube defects in RSTS2 could represent an underestimate.<\/jats:p>","DOI":"10.1097\/mcd.0000000000000262","type":"journal-article","created":{"date-parts":[[2019,2,21]],"date-time":"2019-02-21T12:51:03Z","timestamp":1550753463000},"page":"135-139","source":"Crossref","is-referenced-by-count":8,"title":["Rubinstein\u2013Taybi syndrome 2 with cerebellar abnormality and neural tube defect"],"prefix":"10.1097","volume":"28","author":[{"given":"Kinga","family":"Hadzsiev","sequence":"first","affiliation":[{"name":"Department of Medical Genetics, Medical School, Clinical Center, University of P\u00e9cs, P\u00e9cs"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zsuzsanna","family":"Gyorsok","sequence":"additional","affiliation":[{"name":"Department of Neurology, Bethesda Children Hospital, Budapest, Hungary"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Agnes","family":"Till","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M\u00e1rta","family":"Czak\u00f3","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Medical School, Clinical Center, University of P\u00e9cs, P\u00e9cs"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Oliver","family":"Bartsch","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, University Medical Center of the Johannes Gutenberg University Mainz, Mainz, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","reference":[{"key":"R1-20230913","doi-asserted-by":"crossref","first-page":"485","DOI":"10.1007\/s00439-005-1331-y","article-title":"DNA sequencing of CREBBP demonstrates mutations in 56% of patients with Rubinstein\u2013Taybi syndrome (RSTS) and in another patient with incomplete 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