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Disorders of bone and connective tissue
Published in Angus Clarke, Alex Murray, Julian Sampson, Harper's Practical Genetic Counselling, 2019
Broad thumbs and great toes, short stature, moderate to severe mental retardation and characteristic facies are the principal features of Rubinstein-Taybi syndrome. Recurrence in a family is rare, but patients do not usually reproduce. Molecular studies have identified de novo mutations in the CREB-binding protein gene on chromosome 16p as the usual cause; it is less commonly associated with mutations at a few other loci.
The Emerging Role of Histone Deacetylase Inhibitors in the Treatment of Lymphoma
Published in Gertjan J. L. Kaspers, Bertrand Coiffier, Michael C. Heinrich, Elihu Estey, Innovative Leukemia and Lymphoma Therapy, 2019
The involvement of the HATs and HDACs in cancer is well established. For example, mutations affecting HAT genes have been well described in colorectal and gastric cancers (2). The MYST family of HATs (MOZ) has been implicated in leukemogenesis, being found fused to a p300 homolog-CBP (a HAT) in acute myeloid leukemia (AML) (3). Mutations in CREB binding protein (CBP) leading to its loss of HAT activity have been found in the Rubinstein–Taybi syndrome (4), a disease characterized, among other things, by an increased incidence of neoplasia. In addition, numerous viruses target HATs: (i) adenovirus E1A oncoprotein, which binds to p300 through a domain required for viral transformation, likely contributes to its oncogenic potential (5); (ii) the HIV Tat protein, which interacts with TAF1 and p300/CBP altering chromatin condensation and presumably gene expression (6); and (iii) the EBNA2 protein of the Epstein–Barr virus, which is responsible for B-lymphocyte immortalization, binds to HDAC2 (7). These illustrative examples underscore the importance of these particular reactions and their effects on the transcriptional state of DNA. As such, these same reactions have now become the topic of intense focus, as new drugs, which appear to modulate this biology, become increasingly more available.
Genetics
Published in Stephan Strobel, Lewis Spitz, Stephen D. Marks, Great Ormond Street Handbook of Paediatrics, 2019
Jane A. Hurst, Richard H. Scott
Rubinstein–Taybi syndrome is autosomal dominant; the large majority of cases arise as a result of de novo mutations, meaning that the parents of an affected child are usually at low risk of having a further affected child.
Lacrimal drainage anomalies in Rubinstein–Taybi syndrome: case report and review of literature
Published in Orbit, 2019
Jaee Milind Naik, Milind N Naik, Mohammad Javed Ali
Rubinstein–Taybi syndrome (RTS) or broad thumb-hallux syndrome is a rare autosomal dominant disorder characterized by broad thumbs and first toes, microcephaly, mental retardation, short stature, and facial features including high arched eyebrows, anti-mongoloid slants, hypertelorism, and ear anomalies.1–7 Strict criteria for diagnosis of RTS are not defined, and typical clinical features are commonly relied upon. The prevalence of congenital lacrimal anomalies in RTS patients range from 10–37% in two large systemic series.1,2 Anomalies recognized include congenital nasolacrimal duct obstruction, nasolacrimal duct stenosis, punctal inversion, punctal malposition, common canalicular obstruction, lacrimal fistula, and pediatric acute dacryocystitis.1–10 We present a case of RTS with bilateral congenital nasolacrimal duct obstruction (CNLDO) and left-sided grossly dilated nasolacrimal duct.
People with intellectual disabilities and dysphagia
Published in Disability and Rehabilitation, 2018
Janet Robertson, Darren Chadwick, Susannah Baines, Eric Emerson, Chris Hatton
In addition, the issue of dysphagia in people with intellectual disabilities may be complicated by medical comorbidities, psychiatric, communicative, cognitive and behavioural issues. For example, there is a link between the side effects of neuroleptic medications and dysphagia [28] and people with intellectual disabilities are more likely than others to be prescribed these (e.g., antipsychotic medication, [29]). Further, specific syndromes associated with intellectual disabilities can result in both anatomical and neurological precursors for dysphagia, including Down syndrome [30,31], Rubinstein–Taybi syndrome [32] and Rett syndrome [33,34]. Behavioural factors that may be an issue for people with intellectual disabilities, such as pica, cramming food and eating and drinking quickly, may also exacerbate dysphagia symptoms [6,35]. Intellectual disability may also impact on the ability to learn compensatory strategies and retain skills [36]. Finally, some people with intellectual disabilities may be unable to communicate their dysphagia related experiences [37].
Near-Haploid B-Cell Acute Lymphoblastic Leukemia in a Patient with Rubinstein-Taybi Syndrome
Published in Pediatric Hematology and Oncology, 2022
Kristen J. Kurtz, Eran Tallis, Andrea N. Marcogliese, Rao H. Pulivarthi, Lorraine Potocki, Alexandra M. Stevens
Rubinstein-Taybi syndrome (RSTS) is an autosomal dominant disorder most often caused by heterozygous loss of function or missense pathogenic variants in the gene encoding the epigenetic regulator CREB-binding protein (CREBBP)1–3 on chromosome 16p13.3. The incidence of RSTS is approximately one in 100,000–125,000.4 Individuals with RSTS appear to be at increased risk of malignancy, but the rarity of both RSTS and childhood cancer makes defining the frequency and characteristics of cancer in RSTS challenging. Previously reported malignancies in patients with RSTS include a variety of central nervous system tumors, pheochromocytoma, neuroblastoma, rhabdomyosarcoma, leiomyosarcoma, breast cancer, lymphoma and leukemia.5–8