Article
Biochemistry & Molecular Biology
Elisabetta Di Fede, Emerenziana Ottaviano, Paolo Grazioli, Camilla Ceccarani, Antonio Galeone, Chiara Parodi, Elisa Adele Colombo, Giulia Bassanini, Grazia Fazio, Marco Severgnini, Donatella Milani, Elvira Verduci, Thomas Vaccari, Valentina Massa, Elisa Borghi, Cristina Gervasini
Summary: The study found that butyrate can repair acetylation defects in RSTS patient cells and identified a significant depletion of butyrate-producing bacteria in the gut microbiota of RSTS patients. Furthermore, the effects of butyrate and differences in microbiota composition were observed in a fruit fly model, providing insights for future therapeutic interventions.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Genetics & Heredity
Qian Wang, Cong Wang, Wen Bin Wei, Wei Ning Rong, Xiang Yu Shi
Summary: This study reports a novel CREBBP mutation associated with Rubinstein-Taybi syndrome in a child, and identifies severe intellectual deficiency and prominent ocular abnormalities as notable manifestations in this patient. These findings add to the spectrum of genetic variants described in Rubinstein-Taybi syndrome and present a case with early onset glaucoma.
BMC MEDICAL GENOMICS
(2022)
Article
Pharmacology & Pharmacy
F-R Huang, A-M Zhang, J. Xu, L. Huang
Summary: This study aimed to analyze the clinical features of a Rubinstein-Taybi syndrome (RSTS) case with neonatal glaucoma and explore the manifestation of the disease in combination with genotype-phenotype correlation. The study reported the first case of RSTS caused by a c.2368C>T mutation in CREBBP and emphasized the challenge of overlapping clinical manifestations with other syndromes. Neonatal specialists need to enhance their awareness and recognition of RSTS and utilize genetic testing for accurate diagnosis.
EUROPEAN REVIEW FOR MEDICAL AND PHARMACOLOGICAL SCIENCES
(2021)
Article
Genetics & Heredity
Pui Tak Yu, Ho-Ming Luk, Ivan F. M. Lo
Summary: Rubinstein-Taybi syndrome is a rare autosomal dominant disorder characterized by distinctive facial features, short stature, broad thumbs and halluces, and occasional congenital anomalies. It is mainly caused by pathogenic variants in CREBBP and EP300 genes, with well-reported clinical features in Caucasian ethnicity.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2021)
Article
Genetics & Heredity
Zhouxian Bai, Gaopan Li, Xiangdong Kong
Summary: This article reports a case of a Chinese girl from a core family who has specific developmental delay and immunodeficiency. She carries a novel heterozygous missense mutation of c.2499dupG in exon 14 of the EP300 gene. The study findings suggest that the clinical phenotype caused by this mutation is milder compared to RSTS2 patients, but establishing an accurate genotype-phenotype correlation is difficult.
BMC MEDICAL GENOMICS
(2023)
Article
Genetics & Heredity
Naye Choi, Hwa Young Kim, Byung Chan Lim, Jong-Hee Chae, Soo Yeon Kim, Jung Min Ko
Summary: This study presents the clinical and molecular genetic characteristics of 25 unrelated Korean patients diagnosed with Rubinstein-Taybi syndrome (RSTS), with causative variants identified in 80% of the patients. Intellectual disability was found in 96% of the patients, and further large-scale studies are needed to validate the results and find genetic mutations in molecularly unsolved patients.
MOLECULAR GENETICS & GENOMIC MEDICINE
(2021)
Article
Multidisciplinary Sciences
Jantine van Voorden, Remco Keijser, Geertruda J. M. Veenboer, Solange A. Lopes Cardozo, Dina Diek, Jennifer A. Vlaardingerbroek, Marie van Dijk, Carrie Ris- Stalpers, Ans M. M. van Pelt, Gijs B. Afink
Summary: Early placenta development involves the differentiation of cytotrophoblast into extravillous and syncytiotrophoblast cells. Defective trophoblast development due to EP300 mutations can lead to severe pregnancy complications, such as fetal growth restriction and pre-eclampsia. In this study, the researchers investigated the role of EP300 and CREBBP in trophoblast differentiation using human trophoblast stem cells (TSCs) and organoids. They found that inhibiting EP300 or CREBBP blocked trophoblast differentiation, but specifically inhibiting EP300 resulted in complications similar to Rubinstein-Taybi syndrome pregnancies. Furthermore, they discovered that EP300 facilitates trophoblast differentiation by interfering with EGFR signaling. The findings suggest the crucial involvement of EP300 in early placentation.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2023)
Article
Genetics & Heredity
Shaobin Lin, Zhiming He, Linhuan Huang, Jialiu Liu, Ting Lei, Jianzhu Wu, Peizhi Huang, Yi Zhou, Yanmin Luo
Summary: This study identified a Chinese family with two RSTS siblings and apparently unaffected parents. High-depth NGS revealed low-level mosaicism in the mother's somatic and germline cells. Transcriptome analysis showed differences in mRNA expression levels between the patients and normal individuals.
FRONTIERS IN GENETICS
(2021)
Review
Genetics & Heredity
Julien Van Gils, Frederique Magdinier, Patricia Fergelot, Didier Lacombe
Summary: Rubinstein-Taybi syndrome is a rare congenital developmental disorder caused by gene mutations. Two genes are known to be associated with this syndrome, leading to clinical heterogeneity and difficulties in establishing phenotype/genotype correlations.
Article
Pediatrics
Yang Yang, Jing Xiao, Yuanyuan Ye, Jianwen Xiang, Zhu Wang, Jia Chen
Summary: This case report presents a preterm infant with both Rubinstein-Taybi syndrome (RSTS) and Cutis marmorata telangiectatica congenita (CMTC). Genetic testing revealed a novel frameshift mutation in the CREBBP gene. The findings contribute to the understanding of the molecular spectrum of disease-causing CREBBP gene mutations.
FRONTIERS IN PEDIATRICS
(2023)
Article
Genetics & Heredity
Xiaoyu Huang, Xue Rui, Shuang Zhang, Xiaolong Qi, Weining Rong, Xunlun Sheng
Summary: In this study, a novel de novo heterozygous variation in the EP300 gene was identified in a patient initially diagnosed with eoHM-RSTS. The reduced mRNA expression level of the EP300 gene suggested that this variant had an effect on gene function. The findings of this study expand the genotypic spectrum for EP300-RSTS and provide valuable information for physicians in predicting, diagnosing, counseling, and treating EP300-RSTS.
BMC MEDICAL GENOMICS
(2023)
Article
Biochemistry & Molecular Biology
Qingming Wang, Wanfang Xu, Yanhui Liu, Haiming Yuan
Summary: Loss-of-function variants in CREBBP or EP300 lead to Rubinstein-Taybi syndrome (RSTS). A new case study involving a Chinese girl with novel features expands our understanding of atypical RSTS, which is associated with a specific cluster of mutations in the CREBBP gene. This case also highlights the importance of whole-exome sequencing in identifying previously unreported pathogenic variants in patients with atypical RSTS.
JOURNAL OF MOLECULAR NEUROSCIENCE
(2021)
Article
Genetics & Heredity
Eriko Nishi, Toshiki Takenouchi, Fuyuki Miya, Tomoko Uehara, Kumiko Yanagi, Yuiko Hasegawa, Kimiko Ueda, Seiji Mizuno, Tadashi Kaname, Kenjiro Kosaki, Nobuhiko Okamoto
Summary: MKHK1 is a congenital disorder caused by CREBBP gene variants, characterized by psychomotor delay, intellectual disability, and autistic behavior. This study revealed that pathogenic variants in the last exon of CREBBP contribute to the development of MKHK1.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2022)
Article
Genetics & Heredity
Caiqi Du, Zhuoguang Li, Biao Zou, Xuesong Li, Fan Chen, Yan Liang, Xiaoping Luo, Sainan Shu
Summary: This study retrospectively analyzed the clinical data of two children with RSTS2 and summarized their clinical manifestations, auxiliary examinations, and mutational spectrum. The study identified two novel heterozygous variants in the EP300 exon 22, and for the first time reported a case of RSTS2 associated with adrenal insufficiency. This study is important for understanding the clinical and genetic characteristics of RSTS2.
MOLECULAR GENETICS & GENOMIC MEDICINE
(2023)
Article
Genetics & Heredity
Chelsea M. Withers, Jane Fleming, Courtney K. Wallingford, Michael T. Gabbett, Madelyn Peterson, Linda Humphreys, Aideen McInerney-Leo
Summary: The journey to receiving a diagnosis for a rare genetic disease can be emotionally impactful for parents. This study on Rubinstein-Taybi syndrome (RTS) found that parents experience both positive and negative psychological effects related to the timing of the diagnosis. The provision of a label through diagnosis was seen as beneficial in increasing social acceptance and access to support services.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2021)
