Roberts Syndrome

A rare autsomal recessive disorder that is characterized by pre and post-natal growth deficiency, multiple craniofacial, occular, cardiovascular, genitourinary, and bone abnormalities (especially of the limbs), as well as INTELLECTUAL DISABILITY. Mutations in the ESCO2 gene have been identified. OMIM: 268300

Also Known As:

Networked: 50 relevant articles (1 outcomes, 1 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	De Lange Syndrome (Cornelia De Lange Syndrome)
2.	Hypersensitivity (Allergy)
3.	Ectromelia (Phocomelia)
4.	Neoplasms (Cancer)
5.	Atrial Heart Septal Defects (Atrial Septal Defect)

Experts

1.	Gerton, Jennifer L: 6 articles (01/2016 - 01/2012)
2.	Xu, Baoshan: 4 articles (01/2016 - 01/2012)
3.	Lee, Kenneth K: 4 articles (05/2014 - 01/2012)
4.	Lu, Shuai: 4 articles (05/2014 - 01/2012)
5.	Skibbens, Robert V: 3 articles (01/2022 - 12/2017)
6.	Bose, Tania: 3 articles (05/2014 - 01/2012)
7.	Harris, Bethany: 3 articles (05/2014 - 01/2012)
8.	Iovine, M Kathryn: 2 articles (01/2022 - 12/2017)
9.	Seidel, Chris: 2 articles (05/2014 - 01/2012)
10.	Horsfield, Julia A: 2 articles (01/2012 - 01/2011)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Roberts Syndrome:

1.	Leucine (L-Leucine)FDA Link 01/05/2016 - "Improved transcription and translation with L-leucine stimulation of mTORC1 in Roberts syndrome." 01/01/2013 - "Stimulation of mTORC1 with L-leucine rescues defects associated with Roberts syndrome."
2.	Mechanistic Target of Rapamycin Complex 1IBA 01/05/2016 - "Improved transcription and translation with L-leucine stimulation of mTORC1 in Roberts syndrome." 01/01/2013 - "Stimulation of mTORC1 with L-leucine rescues defects associated with Roberts syndrome."
3.	HeterochromatinIBA 02/01/2007 - "Effects on chromatid cohesion are apparent in RBS/SC syndrome, but data from yeast and Drosophila point to the likelihood that changes in expression of genes located in heterochromatin could contribute to the developmental deficits." 07/01/2005 - "Mapping of a single locus capable of complementing the defective heterochromatin phenotype of Roberts syndrome cells." 01/01/2000 - "Roberts syndrome (RS) is associated with a characteristic constitutive heterochromatin anomaly, namely, at metaphase the centromeres and heterochromatic segments appear split. " 03/01/1998 - "However, centromere splaying in cells of Roberts syndrome patients is limited to i) the centromere region and ii) chromosomes with large amounts of heterochromatin. " 05/01/1991 - "Roberts syndrome is an inherited human condition that is of particular interest because separation of centromeres and constitutive heterochromatin is observed in metaphase chromosomes. "
4.	MutagensIBA 09/01/1991 - "Somatic cell hybridization of Roberts syndrome and normal lymphoblasts resulting in correction of both the cytogenetic and mutagen hypersensitivity cellular phenotypes." 10/01/1989 - "Thus, the present study was an investigation of the mutagen sensitivity in Roberts syndrome, to determine whether there is a similar relationship between abnormal heterochromatin structure and mutagen sensitivity. " 01/01/2019 - "A Roberts Syndrome Individual With Differential Genotoxin Sensitivity and a DNA Damage Response Defect."
5.	CohesinsIBA 01/01/2021 - "Mutations in ESCO2, a gene involved in cohesin complex formation, are known to cause Roberts/SC phocomelia syndrome. " 12/15/2017 - "Cohesin mediates Esco2-dependent transcriptional regulation in a zebrafish regenerating fin model of Roberts Syndrome." 02/01/2014 - "One cohesinopathy, Roberts syndrome (RBS), occurs when a mutation reduces acetylation of the cohesin Smc3 subunit. " 01/01/2014 - "In Roberts syndrome, the lack of cohesin acetylation contributes to nucleolar defects and translational inhibition. " 01/01/2014 - "Roberts syndrome: A deficit in acetylated cohesin leads to nucleolar dysfunction."
6.	AcetyltransferasesIBA 11/01/2020 - "Biallelic loss-of-function variants in ESCO2, which codes for establishment of sister chromatid cohesion N-acetyltransferase 2, cause Roberts syndrome. " 07/15/2008 - "The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity." 01/01/2010 - "Roberts syndrome (RBS) and SC phocomelia are caused by mutations in ESCO2, which codes for an acetyltransferase involved in the regulation of sister chromatid cohesion. " 01/05/2016 - "Roberts syndrome (RBS) is a human developmental disorder caused by mutations in the cohesin acetyltransferase ESCO2. " 01/01/2010 - "Phenotypic variability in 49 cases of ESCO2 mutations, including novel missense and codon deletion in the acetyltransferase domain, correlates with ESCO2 expression and establishes the clinical criteria for Roberts syndrome."
7.	Proteins (Proteins, Gene)FDA Link 06/01/2004 - "The evolution of an ancestral sister chromatid cohesion protein to acquire an additional role in developmental gene regulation suggests that there are parallels between CdLS and Roberts syndrome." 01/01/2011 - "The human developmental diseases Cornelia de Lange Syndrome (CdLS) and Roberts Syndrome (RBS) are both caused by mutations in proteins responsible for sister chromatid cohesion. " 11/01/1994 - "[Roberts syndrome with aneurysm of the interatrial septum, cow milk protein intolerance and absent swallowing reflex]." 12/16/2016 - "Missense mutations within the acetyltransferase domain of these proteins correlate with diseases, including endometrial cancers and Roberts syndrome. " 01/01/2006 - "It was a constant finding in our studied patients demonstrated by DABI stain which supports the possibility that mutations in Roberts syndrome lie in centromere related proteins which may also play a role in body patterning. "
8.	Ribosomal DNA (rDNA)IBA 12/01/2017 - "Eco1 mutation induces Roberts syndrome clinically and rDNA transcription disorders in vivo. " 01/01/2012 - "In addition, cohesion is defective specifically at the rDNA locus in the eco1-W216G mutant, as has been previously reported for Roberts syndrome. " 05/01/2014 - "A budding yeast strain with an eco1 mutation that genocopies Roberts syndrome has reduced ribosomal DNA (rDNA) transcription and a transcriptional signature of starvation. "
9.	Mitomycin (Mitomycin-C)FDA LinkGeneric 07/01/1993 - "Sensitivity of Roberts syndrome cells to gamma radiation, mitomycin C, and protein synthesis inhibitors." 10/01/1989 - "These results support the hypothesis that mitomycin C sensitivity and abnormal heterochromatin structure in Roberts syndrome are related." 10/01/1989 - "Hypersensitivity to mitomycin C cell-killing in Roberts syndrome fibroblasts with, but not without, the heterochromatin abnormality."
10.	ChromatinIBA 12/01/1979 - "In the rare developmental disorder Roberts' syndrome, prophase and metaphase chromosomes display premature sister-chromatid separation, most prominently at certain regions in which the chromatin is composed of highly reiterated base sequences. " 11/01/2019 - "Abbreviations: AD: Alzheimer Disease; AFF4: AF4/FMR2 Family Member 4; ANKRD11: Ankyrin Repeat Domain 11; APC: Anaphase Promoter Complex; ASD: Atrial Septal Defect; ATRX: ATRX Chromatin Remodeler; ATRX: Alpha Thalassemia X-linked intellectual disability syndrome; BIRC5: Baculoviral IAP Repeat Containing 5; BMP: Bone Morphogenetic Protein; BRD4: Bromodomain Containing 4; BUB1: BUB1 Mitotic Checkpoint Serine/Threonine Kinase; CAID: Chronic Atrial and Intestinal Dysrhythmia; CDK1: Cyclin Dependent Kinase 1; CdLS: Cornelia de Lange Syndrome; CHD: Congenital Heart Disease; CHOPS: Cognitive impairment, coarse facies, Heart defects, Obesity, Pulmonary involvement, Short stature, and skeletal dysplasia; CIPO: Chronic Intestinal Pseudo-Obstruction; c-kit: KIT Proto-Oncogene Receptor Tyrosine Kinase; CoATs: Cohesin Acetyltransferases; CTCF: CCCTC-Binding Factor; DDX11: DEAD/H-Box Helicase 11; ERG: Transcriptional Regulator ERG; ESCO2: Establishment of Sister Chromatid Cohesion N-Acetyltransferase 2; GJC1: Gap Junction Protein Gamma 1; H2A: Histone H2A; H3K4: Histone H3 Lysine 4; H3K9: Histone H3 Lysine 9; HCN4: Hyperpolarization Activated Cyclic Nucleotide Gated Potassium and Sodium Channel 4;p HDAC8: Histone deacetylases 8; HP1: Heterochromatin Protein 1; ICC: Interstitial Cells of Cajal; ICC-MP: Myenteric Plexus Interstitial cells of Cajal; ICC-DMP: Deep Muscular Plexus Interstitial cells of Cajal; If: Pacemaker Funny Current; IP3: Inositol trisphosphate; JNK: C-Jun N-Terminal Kinase; LDS: Loeys-Dietz Syndrome; LOAD: Late-Onset Alzheimer Disease; MAPK: Mitogen-Activated Protein Kinase; MAU: MAU Sister Chromatid Cohesion Factor; MFS: Marfan Syndrome; NIPBL: NIPBL, Cohesin Loading Factor; OCT4: Octamer-Binding Protein 4; P38: P38 MAP Kinase; PDA: Patent Ductus Arteriosus; PDS5: PDS5 Cohesin Associated Factor; P-H3: Phospho Histone H3; PLK1: Polo Like Kinase 1; POPDC1: Popeye Domain Containing 1; POPDC2: Popeye Domain Containing 2; PP2A: Protein Phosphatase 2; RAD21: RAD21 Cohesin Complex Component; RBS: Roberts Syndrome; REC8: REC8 Meiotic Recombination Protein; RNAP2: RNA polymerase II; SAN: Sinoatrial node; SCN5A: Sodium Voltage-Gated Channel Alpha Subunit 5; SEC: Super Elongation Complex; SGO1: Shogoshin-1; SMAD: SMAD Family Member; SMC1A: Structural Maintenance of Chromosomes 1A; SMC3: Structural Maintenance of Chromosomes 3; SNV: Single Nucleotide Variant; SOX2: SRY-Box 2; SOX17: SRY-Box 17; SSS: Sick Sinus Syndrome; STAG2: Cohesin Subunit SA-2; TADs: Topology Associated Domains; TBX: T-box transcription factors; TGF-β: Transforming Growth Factor β; TGFBR: Transforming Growth Factor β receptor; TOF: Tetralogy of Fallot; TREK1: TREK-1 K(+) Channel Subunit; VSD: Ventricular Septal Defect; WABS: Warsaw Breakage Syndrome; WAPL: WAPL Cohesin Release Factor."

Therapies and Procedures

1.	Rehabilitation 12/01/2007 - "Femorotibial ankylosis in a child with Roberts syndrome: an "aggressive" approach to habilitation."
2.	Moxibustion 06/25/2020 - "MetPA showed that moxibustion could regulate 10 metabolic pathways for SH syndrome and 7 metabolic pathways for SC syndrome. " 06/25/2020 - "1H-NMR analysis displayed a total of 16 potential biomarkers in the injured gastric mucosa of SH syndrome and 14 biomarkers for the SC syndrome after mode-ling, and 13 metabolites related to SH moxibustion and 8 metabolites related to SC moxibustion after moxibustion interventions, respectively. " 06/25/2020 - "Among the 8 metabolites related to the SC syndrome, creatinine, ethanolamine, choline, adenosine and nicotinamide were markedly increased (P<0.05), and glycine, creatine phosphate and tyrosine remarkably decreased in their levels after moxibustion (P<0.05). "