Rubinstein-Taybi syndrome 2 with cerebellar abnormality and neural tube defect

Clinical Dysmorphology
Kinga HadzsievOliver Bartsch

Abstract

Rubinstein-Taybi syndrome (RSTS) is a rare dominant disorder with intellectual disability, postnatal growth deficiency, and multiple congenital anomalies. Approximately 50-70% of the patients have a mutation in the CREBBP gene (RSTS1) and 5-10% display an EP300 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 CREBBP and EP300 genes showed a heterozygous 17-bp deletion (c.5698_5714del AAGGCAGCAGGCCAGGT) in exon 31 of the EP300 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 ~ 6% occult or overt...Continue Reading

References

Jun 1, 1963·American Journal of Diseases of Children·J H RUBINSTEIN, H TAYBI
Feb 12, 2005·American Journal of Human Genetics·Jeroen H RoelfsemaDorien J M Peters
Apr 16, 2005·American Journal of Medical Genetics. Part a·Toshiyuki YamamotoGen Nishimura
Jul 27, 2006·European Journal of Human Genetics : EJHG·Raoul C M Hennekam
Dec 17, 2009·American Journal of Medical Genetics. Part a·Oliver BartschThomas Haaf
Sep 21, 2011·American Journal of Medical Genetics. Part a·Lea ParsleyAnne Chun-Hui Tsai
Aug 24, 2012·Child's Nervous System : ChNS : Official Journal of the International Society for Pediatric Neurosurgery·Carlo GiussaniErik P Sganzerla
Jul 6, 2014·American Journal of Medical Genetics. Part a·Lex BeetsRaoul C Hennekam
Aug 8, 2015·The Neuroradiology Journal·Claudia CotesRoy Riascos
Sep 21, 2016·American Journal of Medical Genetics. Part a·Patricia FergelotRaoul C Hennekam
Dec 28, 2016·Clinical Dysmorphology·Mateusz JaglaBeata A Nowakowska
Feb 21, 2018·American Journal of Medical Genetics. Part a·Leonie A MenkeRaoul C Hennekam

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Citations

Sep 29, 2020·American Journal of Medical Genetics. Part a·Cedrik Tekendo-NgongangPaul Kruszka
Oct 13, 2020·American Journal of Medical Genetics. Part a·Jennifer L CohenMatthew A Deardorff
Jul 3, 2021·Genes·Julien Van GilsDidier Lacombe

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Methods Mentioned

BETA
cesarean section
Feature Extraction

Software Mentioned

Agilent Feature Extraction
Cytogenomics
Mutation Surveyor
NextGENe
SoftGenetics

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