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| http://dx.doi.org/10.1038/ejhg.2010.124 | DOI Listing |
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Meningiomas in Rubinstein-Taybi syndrome: A case report and comprehensive review.
J Neuropathol Exp Neurol
December 2024
Department of Pathology and Molecular Medicine, McMaster University, Hamilton, Ontario, Canada.
Rubinstein-Taybi syndrome (RTS) is a congenital disorder with characteristic clinical manifestations. In the vast majority of cases, it is caused by mutations of the gene encoding the transcriptional co-activator cAMP-response element binding protein (CBP)-binding protein (CREBBP). It has been thought to be a tumor predisposition syndrome as RTS patients have an increased risk of developing tumors including meningiomas.
View Article and Find Full Text PDFDuane retraction syndrome associated with variant of Rubinstein-Taybi syndrome.
Am J Ophthalmol Case Rep
December 2024
University of California, San Francisco, Department of Ophthalmology, USA.
Purpose: This case report describes a child with Duane retraction syndrome (DRS) associated with genetically confirmed Type II Rubinstein-Taybi syndrome (RTS). The purpose is to better understand the ocular manifestations of RTS and further explore the possibility that the neurodevelopmental genetic abnormality in RTS may sporadically impact ocular motor nerves.
Observations: A 2-year-old male with a history of Type II RTS associated with a de novo variant of presented for a comprehensive eye examination, which revealed a left esotropia of 20 prism diopters (PD) in primary gaze with a significant left face turn, mild globe retraction on adduction in the left eye, and abduction limitation consistent with Type 1 DRS in the left eye.
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 PDFUpdate on cancer screening in children with syndromes of bone lesions, hereditary leiomyoma and renal cell carcinoma syndrome, and other rare syndromes.
Clin Cancer Res
November 2024
National Cancer Institute, Bethesda, MD, United States.
The management of children with syndromes associated with an increased risk of benign and malignant neoplasms is a complex challenge for healthcare professionals. The 2023 AACR Childhood Cancer Predisposition Workshop provided updated consensus guidelines on cancer surveillance in these syndromes, aiming to improve early detection, intervention, and reduce morbidity associated with such neoplasms. In this paper, we review several of the rare conditions discussed in this workshop.
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.
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