Rubinstein-Taybi Syndrome (Syndrome, Rubinstein-Taybi)

A chromosomal disorder characterized by MENTAL RETARDATION, broad thumbs, webbing of fingers and toes, beaked nose, short upper lip, pouting lower lip, agenesis of corpus callosum, large foramen magnum, keloid formation, pulmonary stenosis, vertebral anomalies, chest wall anomalies, sleep apnea, and megacolon. The disease has an autosomal dominant pattern of inheritance and is associated with deletions of the short arm of chromosome 16 (16p13.3).

Also Known As:

Networked: 106 relevant articles (2 outcomes, 1 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Agammaglobulinemia (Hypogammaglobulinemia)
2.	Intellectual Disability (Idiocy)
3.	Neurodevelopmental Disorders
4.	Rett Syndrome (Rett's Disorder)
5.	Huntington Disease (Huntington's Disease)

Experts

1.	Alari, Valentina: 4 articles (01/2022 - 01/2018)
2.	Larizza, Lidia: 4 articles (01/2022 - 01/2018)
3.	Russo, Silvia: 4 articles (01/2022 - 01/2018)
4.	Barco, Angel: 4 articles (09/2020 - 06/2004)
5.	Calzari, Luciano: 3 articles (01/2022 - 01/2018)
6.	Finelli, Palma: 3 articles (05/2021 - 01/2018)
7.	Gervasini, Cristina: 3 articles (03/2021 - 01/2018)
8.	Roelfsema, Jeroen H: 3 articles (04/2006 - 02/2003)
9.	Ajmone, Paola Francesca: 2 articles (05/2021 - 01/2018)
10.	Catusi, Ilaria: 2 articles (05/2021 - 01/2018)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Rubinstein-Taybi Syndrome:

1.	Immunoglobulins (Immunoglobulin)IBA 01/01/2019 - "Immunoglobulin Replacement Therapy (IRT) was effective with a good hematological values control in three patients with a secondary ES (ALPS, CVID, and a patient with Rubinstein Taybi Syndrome and a progressive severe B cell deficiency with hypogammaglobulinemia). "
2.	Sevoflurane (Ultane)FDA LinkGeneric 10/01/2005 - "Improved haemodynamics with sevoflurane in laminectomy in a child with Rubinstein-Taybi syndrome."
3.	Codon (Codons)IBA 07/01/2002 - "Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP."
4.	CREB-Binding ProteinIBA 12/15/2020 - "Introduction of a de novo Creb-binding protein gene mutation in sperm to produce a Rubinstein-Taybi syndrome model using inbred C57BL/6 mice." 08/01/2013 - "Genomic aberrations in the CREBBP (CREB-binding protein - CREBBP or CBP) gene such as point mutations, small insertions or exonic copy number changes are usually associated with Rubinstein-Taybi syndrome (RTs). " 02/10/2012 - "SRCAP is an SNF2-related chromatin-remodeling factor that serves as a coactivator for CREB-binding protein (CREBBP, better known as CBP, the major cause of Rubinstein-Taybi syndrome [RTS]). " 01/01/2012 - "Mutations in the coactivator CREB-binding protein (CBP) are a major cause of the human skeletal dysplasia Rubinstein-Taybi syndrome (RTS); however, the mechanism by which these mutations affect skeletal mineralization and patterning is unknown. " 06/01/2010 - "A case of Rubinstein-Taybi Syndrome with a CREB-binding protein gene mutation."
5.	Proteins (Proteins, Gene)FDA Link 03/01/2000 - "Diagnostic analysis of the Rubinstein-Taybi syndrome: five cosmids should be used for microdeletion detection and low number of protein truncating mutations." 03/01/1999 - "Truncated CBP protein leads to classical Rubinstein-Taybi syndrome phenotypes in mice: implications for a dominant-negative mechanism." 06/01/1997 - "The CBP gene encodes a transcriptional adaptor/coactivator protein and it is mutated in patients with Rubinstein-Taybi syndrome. " 11/01/2023 - "The incidence of these complications is increased in pregnancies of fetuses affected by Rubinstein-Taybi syndrome, a developmental disorder predominantly caused by heterozygous mutations in CREB-binding protein (CREBBP) or E1A-binding protein p300 (EP300). " 03/01/2021 - "SRCAP is one of several proteins that act as coactivator for the CREB-binding protein which is associated with Rubinstein-Taybi syndrome (RSTS). "
6.	Histone Acetyltransferases (Histone Acetyltransferase)IBA 02/10/2012 - "Phenotypic differences and similarities between GPS, the Say-Barber-Biesecker variant of Ohdo syndrome (caused by different mutations of KAT6B), and Rubinstein-Taybi syndrome (caused by mutations in other histone acetyltransferases) are discussed. " 01/19/2010 - "CBP histone acetyltransferase activity regulates embryonic neural differentiation in the normal and Rubinstein-Taybi syndrome brain." 05/01/2001 - "Defect of histone acetyltransferase activity of the nuclear transcriptional coactivator CBP in Rubinstein-Taybi syndrome." 01/15/2014 - "In this regard, one genetic syndrome that is associated with deficits in neural development and epilepsy is Rubinstein-Taybi Syndrome (RTS), where the transcriptional activator and histone acetyltransferase CBP is mutated and haploinsufficient. " 01/01/2016 - "Mutations in the histone acetyltransferase CREB binding protein (CBP, CREBBP) cause Rubinstein-Taybi Syndrome (RTS), a developmental disorder that includes ASD-like symptoms. "
7.	Anesthetics (Anesthetic Agents)IBA 06/01/2020 - "Anesthetic Management of an Asian Pediatric Patient With Rubinstein-Taybi Syndrome for Dental Surgery." 06/01/2016 - "Anesthetic management for thoracic surgery in Rubinstein-Taybi syndrome." 06/01/2011 - "A limited number of cases of anesthetic management of Rubinstein-Taybi Syndrome (RTS) have been reported since this syndrome was first diagnosed in 1963. " 06/01/2011 - "Anesthetic management of children with Rubinstein-Taybi syndrome--case reports." 07/01/2004 - "Anesthetic management of a child with Rubinstein-Taybi syndrome."
8.	Carrier Proteins (Binding Protein)IBA 02/23/2013 - "Novel cAMP binding protein-BP (CREBBP) mutation in a girl with Rubinstein-Taybi syndrome, GH deficiency, Arnold Chiari malformation and pituitary hypoplasia." 01/23/2012 - "Further investigation by high resolution array-based comparative genomic hybridization revealed a 120 kb microdeletion on chromosomal band 16 p13.3. A mutation or abnormality in the cyclic adenosine monophosphate-response element-binding protein has previously been determined as a cause of Rubinstein-Taybi syndrome. " 02/01/2010 - "Rubinstein-Taybi Syndrome (RSTS, OMIM 180849) is a rare condition, which in 65% of cases is caused by haploinsufficiency of CREBBP (cAMP response element binding protein binding protein) localized to 16p13.3. A small subset of RSTS cases caused by 16p13.3 microdeletions involving neighboring genes have been recently suggested to be a true contiguous gene syndrome called severe RSTS or 16p13.3 deletion syndrome (OMIM 610543). " 02/02/2011 - "Rubinstein-Taybi syndrome (RSTS) is an inheritable disease associated with mutations in the gene encoding the CREB (cAMP response element-binding protein)-binding protein (CBP) and characterized by growth impairment, learning disabilities, and distinctive facial and skeletal features. " 03/01/2012 - "Though loss of function in CBP/p300, a family of CREB-binding proteins, has been causally associated with a variety of human neurological disorders, such as Rubinstein-Taybi syndrome, Huntington's disease and drug addiction, the role of EP300 interacting inhibitor of differentiation 1 (EID1), a CBP/p300 inhibitory protein, in modulating neurological functions remains completely unknown. "
9.	Histones (Histone)IBA 12/12/2014 - "A point mutation in the p300 PHD finger that is related to the Rubinstein-Taybi syndrome resulted in increased self-acetylation but retained the ability to acetylate histones. " 01/01/2012 - "Histone acetylation deficits in lymphoblastoid cell lines from patients with Rubinstein-Taybi syndrome." 02/01/2008 - "Two major neuroprotective mechanisms of HDAC inhibitors have been identified, namely the transcriptional activation of disease-modifying genes and the correction of perturbations in histone acetylation homeostasis, which have been shown to be intimately involved in the neurodegenerative pathomechanisms of Huntington's, Parkinson's and Kennedy disease, amyotropic lateral sclerosis, Rubinstein-Taybi syndrome as well as stroke. " 05/01/2013 - "Also, genetic variants of chromatin remodeling proteins and histone tail modifiers are involved in genetic disorders like α thalassemia X-linked mental retardation syndrome, CHARGE syndrome, Cockayne syndrome, Rett syndrome, systemic lupus erythematous, Rubinstein-Taybi syndrome, Coffin-Lowry syndrome, Sotos syndrome, and facioescapulohumeral syndrome, among others. " 11/16/2022 - "Patients carrying autosomal dominant mutations in the histone/lysine acetyl transferases CBP or EP300 develop a neurodevelopmental disorder: Rubinstein-Taybi syndrome (RSTS). "
10.	ChromatinIBA 06/24/2004 - "Chromatin acetylation, memory, and LTP are impaired in CBP+/- mice: a model for the cognitive deficit in Rubinstein-Taybi syndrome and its amelioration." 09/01/2020 - "Rubinstein-Taybi syndrome (RSTS) is a rare multisystem developmental disorder with moderate to severe intellectual disability caused by heterozygous mutations of either CREBBP or EP300 genes encoding CBP/p300 chromatin regulators. " 04/08/2006 - "We examined lymphoblastoid cell lines (LCLs) generated from patients with different types of chromatin disorders: Immunodeficiency, Centromeric instability, Facial anomalies (ICF) syndrome, Coffin Lowry syndrome, Rubinstein Taybi syndrome and Fascioscapulohumeral Muscular Dystrophy. " 01/01/2022 - "The CdLS phenotype overlaps with a number of related diagnoses such as KBG syndrome and Rubinstein-Taybi syndrome both caused by variants in chromatin-associated factors other than cohesin. " 04/01/2013 - "Over the last decade it has become increasingly clear that mutations of genes involved in epigenetic mechanism, such as DNA methyltransferases, methyl-binding domain proteins, histone deacetylases, histone methylases and members of the SWI/SNF family of chromatin remodelers are linked to human disorders, including Immunodeficiency Centromeric instability Facial syndrome 1, Rett syndrome, Rubinstein-Taybi syndrome, Sotos syndrome or alpha-thalassemia/mental retardation X-linked syndrome, among others. "

Therapies and Procedures

1.	Therapeutics 01/01/2012 - "Potential therapy for Rubinstein-Taybi syndrome." 10/01/2008 - "Here, we summarize the current state of development of HDAC therapeutics and their application for the treatment of human brain disorders such as Rubinstein-Taybi syndrome, Rett syndrome, Friedreich's ataxia, Huntington's disease and multiple sclerosis." 01/01/2019 - "Immunoglobulin Replacement Therapy (IRT) was effective with a good hematological values control in three patients with a secondary ES (ALPS, CVID, and a patient with Rubinstein Taybi Syndrome and a progressive severe B cell deficiency with hypogammaglobulinemia). "
2.	Laminectomy 10/01/2005 - "Improved haemodynamics with sevoflurane in laminectomy in a child with Rubinstein-Taybi syndrome."
3.	Osteotomy 05/01/2010 - "We undertook a retrospective review of seven children (13 thumbs) with Rubinstein-Taybi syndrome whose thumbs were treated using a corrective osteotomy to the delta phalanx over a 13 year period. " 05/01/2010 - "Long-term results following osteotomy of the thumb delta phalanx in Rubinstein-Taybi Syndrome." 01/01/2015 - "Previous reports have indicated that corrective osteotomy of the thumbs in Rubinstein-Taybi syndrome has an associated risk of incomplete correction and >30% of recurrence, because severe preoperative deformities of the delta phalanx make angulatory osteotomies difficult. " 06/01/2000 - "Congenital radial angulation deformity of the thumb in Rubinstein-Taybi syndrome is generally corrected by a wedge osteotomy of the delta phalanx and a redistribution of the overlying skin using a Z-plasty or, rarely, skin grafting. "
4.	Anesthesia 12/01/2012 - "Management of Anesthesia for Rubinstein-Taybi syndrome." 04/01/2007 - "[Anesthesia for a boy with Rubinstein-Taybi syndrome]." 10/01/2005 - "[Anesthesia in patient with Rubinstein-Taybi syndrome: case report.]." 10/01/2005 - "This report aimed at describing the anesthetic management of a patient with Rubinstein-Taybi syndrome submitted to dentistry surgery and at discussing aspects of this syndrome that may be relevant to anesthesia. "
5.	Ligation 01/01/2022 - "Genetic Diagnosis of Rubinstein-Taybi Syndrome With Multiplex Ligation-Dependent Probe Amplification (MLPA) and Whole-Exome Sequencing (WES): Case Series With a Novel CREBBP Variant." 01/07/2013 - "We propose the use of multiplex ligation-dependent probe amplification as a fast, accurate and cheap test for detecting large deletions in the CREBBP gene in the sub-group of Rubinstein-Taybi syndrome patients with low intelligence quotients and autistic features. " 01/07/2013 - "Based on these observations, we used multiplex ligation-dependent probe amplification to search for large deletions affecting the CREBBP gene in a Rubinstein-Taybi syndrome patient. " 01/07/2013 - "Multiplex ligation-dependent probe amplification detection of an unknown large deletion of the CREB-binding protein gene in a patient with Rubinstein-Taybi syndrome."