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The Epigenetic Machinery and Energy Expenditure: A Network to Be Revealed.
Genes (Basel)
January 2025
Fondazione IRCSS Ca' Granda Ospedale Maggiore Policlinico, 20122 Milano, Italy.
Mendelian disorders of the epigenetic machinery (MDEMs) include a large number of conditions caused by defective activity of a member of the epigenetic machinery. MDEMs are characterized by multiple congenital abnormalities, intellectual disability and abnormal growth. that can be variably up- or down-regulated.
View Article and Find Full Text PDFSkipping 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 PDFRubinstein-Taybi Syndrome Clinical Characteristics from the Perspective of Quality of Life and the Impact of the Disease on Family Functioning.
J Clin Med
September 2024
Division of Paediatrics and Coordinated Child Care, Wroclaw Medical University, 50-367 Wrocław, Poland.
: Rubinstein-Taybi Syndrome (RSTS-OMIM, #180849) is a rare genetic disorder associated with distinctive clinical features, including a typical craniofacial appearance, global developmental delay, intellectual disability and broad, angular thumbs and fingers. The main aim of the study was to evaluate the health problems of children with RTST, their quality of life and the impact of the disease on family functioning. In addition, we investigate whether comorbidities, autistic behavior and eating problems affect the children's overall QOL.
View Article and Find Full Text PDF[Prenatal diagnosis of a fetus with Rubinstein-Taybi syndrome].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
August 2024
Medical Genetics and Prenatal Diagnosis Department, the Third Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China.
Article Synopsis
- This study investigates the characteristics and genetic variant of the CREBBP gene in a fetus diagnosed with Rubinstein-Taybi syndrome (RSTS).
- Whole exome sequencing (WES) was performed on samples from the fetus and its parents, revealing a specific pathogenic variant in the CREBBP gene that likely caused the syndrome.
- The findings highlight the effectiveness of WES for prenatal diagnosis of RSTS and add new insights into the genetic mutations associated with this condition.
Human Genetics of Hypoplastic Left Heart Syndrome.
Adv Exp Med Biol
June 2024
Department of Pediatrics, Herma Heart Center, Children's Hospital of Wisconsin, Medical College of Wisconsin, Milwaukee, WI, USA.
Article Synopsis
- Hypoplastic left heart syndrome (HLHS) is a serious heart defect involving underdevelopment of the left ventricle and associated structures, leading to significant health risks despite advances in treatment.
- Genetic factors play a key role in HLHS, with links to cytogenetic abnormalities, familial patterns, and identified genomic regions, suggesting a hereditary basis.
- Identifying specific genetic causes is challenging; HLHS appears to result from complex inheritance rather than a single variant, prompting researchers to adopt more sophisticated models in their studies.
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