Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1097/MCD.0000000000000164 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Skipping of Exon 20 in EP300: A Novel Variant Linked to Rubinstein-Taybi Syndrome With Atypical and Severe Clinical Manifestations.
Clin Genet
November 2024
Department of Neurosciences Rita Levi-Montalcini, University of Turin, Turin, Italy.
Rubinstein-Taybi syndrome (RSTS) is a rare autosomal dominant neurodevelopmental disorder linked to haploinsufficiency of CREBBP (RSTS1) and EP300 (RSTS2) genes. Characteristic features often include distinctive facial traits, broad thumbs and toes, short stature, and various degrees of intellectual disability. The clinical presentation of RSTS is notably variable, making it challenging to establish a clear genotype-phenotype correlation, except for specific variants which cause the allelic Menke-Hennekam syndrome.
View Article and Find Full Text PDFAn unusual presentation of glaucoma in a neonate with Rubinstein-Taybi syndrome.
Ophthalmic Genet
October 2024
Dr. Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi, India.
Article Synopsis
- A 15-day-old male infant with Rubinstein-Taybi Syndrome (RTS) was diagnosed with unilateral congenital glaucoma in his left eye, presenting with corneal enlargement and haze.
- Imaging showed significant eye abnormalities, including iris atrophy and adhesions related to a cataractous lens.
- Genetic testing revealed a new harmful variant in the CREBBP gene, and treatment involved a laser procedure to manage intraocular pressure.
Characterization of a novel HDAC2 pathogenetic variant: a missing puzzle piece for chromatinopathies.
Hum Genet
June 2024
Department of Health Sciences, Università degli Studi di Milano, Milan, Italy.
Article Synopsis
- Histone deacetylases (HDACs) are crucial for modifying histones, influencing gene expression and chromatin structure, with Class I HDACs being widely expressed and involved in protein complexes.
- A study identified a novel mutation in the HDAC2 gene in a patient with Rubinstein-Taybi syndrome (RSTS), who initially tested negative for known RSTS mutations, suggesting a connection between this mutation and chromatinopathies.
- Investigations revealed that the HDAC2 mutation caused improper localization in the nucleus, altered protein levels, and distinct patterns of gene expression, highlighting HDAC2's potential role in chromatin-related disorders.
A Case Report of Rubinstein-Taybi Syndrome Presenting with Extensive Keloid Formation and Review of Literature.
Ann Dermatol
May 2023
Department of Dermatology, Seoul National University Bundang Hospital, Seongnam, Korea.
Rubinstein-Taybi syndrome (RSTS) is an extremely rare genetic disorder affecting multi-organ systems. A tendency to form keloid is one of the common dermatologic manifestations. We describe a 23-year-old female presented with extensive keloids which developed spontaneously.
View Article and Find Full Text PDFMolecular insight into CREBBP and TANGO2 variants causing intellectual disability.
J Gene Med
January 2024
Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology (KUST), Kohat, Khyber Pakhtunkhwa, Pakistan.
Background: Intellectual disability (ID) can be associated with different syndromes such as Rubinstein-Taybi syndrome (RSTS) and can also be related to conditions such as metabolic encephalomyopathic crises, recurrent,with rhabdomyolysis, cardiac arrhythmias and neurodegeneration. Rare congenital RSTS1 (OMIM 180849) is characterized by mental and growth retardation, significant and duplicated distal phalanges of thumbs and halluces, facial dysmorphisms, and an elevated risk of malignancies. Microdeletions and point mutations in the CREB-binding protein (CREBBP) gene, located at 16p13.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!