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https://www.readbyqxmd.com/read/29883886/ipsc-derived-neurons-of-crebbp-and-ep300-mutated-rubinstein-taybi-syndrome-patients-show-morphological-alterations-and-hypoexcitability
#1
Valentina Alari, Silvia Russo, Benedetta Terragni, Paola Francesca Ajmone, Alessandra Sironi, Ilaria Catusi, Luciano Calzari, Daniela Concolino, Rosa Marotta, Donatella Milani, Daniela Giardino, Massimo Mantegazza, Cristina Gervasini, Palma Finelli, Lidia Larizza
Rubinstein-Taybi syndrome (RSTS) is a rare neurodevelopmental disorder characterized by distinctive facial features, growth retardation, broad thumbs and toes and mild to severe intellectual disability, caused by heterozygous mutations in either CREBBP or EP300 genes, encoding the homologous CBP and p300 lysine-acetyltransferases and transcriptional coactivators. No RSTS in vitro induced Pluripotent Stem Cell (iPSC)-neuronal model is available yet to achieve mechanistic insights on cognitive impairment of RSTS patients...
May 30, 2018: Stem Cell Research
https://www.readbyqxmd.com/read/29850348/septate-uterus-in-a-girl-with-rubinstein-taybi-syndrome
#2
Filipa de Castro Coelho, Sara Câmara, Inês Alves, Kathleen Brazão
Rubinstein-Taybi syndrome is an extremely rare plurimalformative condition that can affect any organ. However, reports regarding gynecological problems are unusual. We report the first case of a septate uterus in an adolescent with this syndrome, in agreement with the American Society for Reproductive Medicine (ASRM) and the Congenital Uterine Malformations by Expert (CUME) criteria for uterine septum. Additional studies are required to determine whether there is an increased frequency of müllerian duct anomalies with the condition...
2018: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/29707411/case-report-of-proliferative-peripheral-retinopathy-in-two-familial-lissencephaly-infants-with-miller-dieker-syndrome
#3
Omar Shoukfeh, Alan B Richards, Leonard A Prouty, John Hinrichsen, William Rand Spencer, Marlyn P Langford
A complete ophthalmic examination is not routinely performed on infants with Miller-Dieker syndrome (MDS, chromosome 17p13.3 microdeletion). The authors present the cases of four cousins with MDS who also carried a 16p13.3 microduplication (not associated with Rubinstein-Taybi syndrome). Retinopathy of prematurity-like proliferative peripheral retinopathy (PPR) was detected in two male first cousins, but was not detected in the female half-cousins. PPR in the first infant resolved by 4 months, but the second infant's PPR progressed, requiring photocoagulation followed by lens-sparing vitrectomy...
June 2018: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/29672823/developmental-disorders-with-intellectual-disability-driven-by-chromatin-dysregulation-clinical-overlaps-and-molecular-mechanisms
#4
REVIEW
L Larizza, P Finelli
Advances in genomic analyses based on next-generation sequencing and integrated omics approaches, have accelerated in an unprecedented way the discovery of causative genes of developmental delay (DD) and intellectual disability (ID) disorders. Chromatin dysregulation has been recognized as common pathomechanism of mendelian DD/ID syndromes due to mutation in genes encoding chromatin regulators referred as transcriptomopathies or epigenetic disorders. Common to these syndromes are the wide phenotypic breadth and the recognition of groups of distinct syndromes with shared signs besides cognitive impairment, likely mirroring common molecular mechanisms...
April 19, 2018: Clinical Genetics
https://www.readbyqxmd.com/read/29660026/familial-syndromes-involving-meningiomas-provide-mechanistic-insight-into-sporadic-disease
#5
Keith Kerr, Krista Qualmann, Yoshua Esquenazi, John Hagan, Dong H Kim
Currently, there is an incomplete understanding of the molecular pathogenesis of meningiomas, the most common primary brain tumor. Several familial syndromes are characterized by increased meningioma risk, and the genetics of these syndromes provides mechanistic insight into sporadic disease. The best defined of these syndromes is neurofibromatosis type 2, which is caused by a mutation in the NF2 gene and has a meningioma incidence of approximately 50%. This finding led to the subsequent discovery that NF2 loss-of-function occurs in up to 60% of sporadic tumors...
April 11, 2018: Neurosurgery
https://www.readbyqxmd.com/read/29619237/refining-the-clinical-phenotype-of-okur-chung-neurodevelopmental-syndrome
#6
Moe Akahira-Azuma, Yoshinori Tsurusaki, Yumi Enomoto, Jun Mitsui, Kenji Kurosawa
We describe an 8-year-old Japanese boy with a de novo recurrent missense mutation in CSNK2A1 , c.593A>G, that is causative of Okur-Chung neurodevelopmental syndrome. He exhibited distinctive facial features, severe growth retardation with relative macrocephaly, and friendly, hyperactive behavior. His dysmorphic features might suggest a congenital histone modification defect syndrome, such as Kleefstra, Coffin-Siris, or Rubinstein-Taybi syndromes, which are indicative of functional interactions between the casein kinase II, alpha 1 gene and histone modification factors...
2018: Human Genome Variation
https://www.readbyqxmd.com/read/29551561/opposing-effects-of-crebbp-mutations-govern-the-phenotype-of-rubinstein-taybi-syndrome-and-adult-shh-medulloblastoma
#7
Daniel J Merk, Jasmin Ohli, Natalie D Merk, Venu Thatikonda, Sorana Morrissy, Melanie Schoof, Susanne N Schmid, Luke Harrison, Severin Filser, Julia Ahlfeld, Serap Erkek, Kaamini Raithatha, Thomas Andreska, Marc Weißhaar, Michael Launspach, Julia E Neumann, Mehdi Shakarami, Dennis Plenker, Marco A Marra, Yisu Li, Andrew J Mungall, Richard A Moore, Yussanne Ma, Steven J M Jones, Beat Lutz, Birgit Ertl-Wagner, Andrea Rossi, Rabea Wagener, Reiner Siebert, Andreas Jung, Charles G Eberhart, Boleslaw Lach, Michael Sendtner, Stefan M Pfister, Michael D Taylor, Lukas Chavez, Marcel Kool, Ulrich Schüller
Recurrent mutations in chromatin modifiers are specifically prevalent in adolescent or adult patients with Sonic hedgehog-associated medulloblastoma (SHH MB). Here, we report that mutations in the acetyltransferase CREBBP have opposing effects during the development of the cerebellum, the primary site of origin of SHH MB. Our data reveal that loss of Crebbp in cerebellar granule neuron progenitors (GNPs) during embryonic development of mice compromises GNP development, in part by downregulation of brain-derived neurotrophic factor (Bdnf)...
March 26, 2018: Developmental Cell
https://www.readbyqxmd.com/read/29506490/rubinstein-taybi-2-associated-to-novel-ep300-mutations-deepening-the-clinical-and-genetic-spectrum
#8
María López, Alberto García-Oguiza, Judith Armstrong, Inmaculada García-Cobaleda, Sixto García-Miñaur, Fernando Santos-Simarro, Verónica Seidel, Elena Domínguez-Garrido
BACKGROUND: Rubinstein-Taybi syndrome (RSTS) is a rare autosomal dominant neurodevelopmental disorder characterized by broad thumbs and halluces. RSTS is caused by mutations in CREBBP and in EP300 genes in 50-60% and 8%, respectively. Up to now, 76 RSTS-EP300 patients have been described. We present the clinical and molecular characterization of a cohort of RSTS patients carrying EP300 mutations. METHODS: Patients were selected from a cohort of 72 individuals suspected of RSTS after being negative in CREBBP study...
March 5, 2018: BMC Medical Genetics
https://www.readbyqxmd.com/read/29472422/prolonged-paralysis-with-atracurium-use-in-a-patient-with-rubinstein-taybi-syndrome
#9
T Kumaravadivel Dharmalingam, Constance Liew Sat Lin, Rajesh Kumar Muniandy
Rubinstein-Taybi syndrome (RTS) is a rare autosomal dominant disorder that occurs due to a microdeletion of chromosome 16p13. The craniofacial abnormalities in these patients may pose a challenge for anaesthetist performing tracheal intubation. However, there are no known reported cases of drug interaction with non-depolarising muscle relaxant in patients with RTS. This young patient with RTS presented with an unexpected prolonged atracurium effect during the course of anaesthesia. After ruling out other possible causes, we have come to a conclusion that RTS itself could have played a role in the prolonged effect of atracurium...
February 22, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29469775/coexistence-of-keloids-and-pilomatricoma-in-a-patient-with-rubinstein-taybi-syndrome
#10
Yosuke Yagi, Yutaka Kuwatsuka, Misachi Asai, Mai Honda, Atsushi Utani
Rubinstein-Taybi syndrome (RTS) is an autosomaldominant hereditary disease, which contains many skeletal and organ anomalies as well as mental retardation. Although high incidence of keloids in RTS is known, it is difficult to find a detailed report on the clinical features of keloids. In the following letter, we report an RTS patient fulfilling diagnostic criteria whosuffered from both keloids and pilomatricoma. We also performed a literature search, which identified the possible involvement of the Wnt/β-catenin signaling pathway in the pathogenesis of these two skin lesions...
January 15, 2018: Dermatology Online Journal
https://www.readbyqxmd.com/read/29460469/further-delineation-of-an-entity-caused-by-crebbp-and-ep300-mutations-but-not-resembling-rubinstein-taybi-syndrome
#11
Leonie A Menke, Thatjana Gardeitchik, Peter Hammond, Ketil R Heimdal, Gunnar Houge, Sophia B Hufnagel, Jianling Ji, Stefan Johansson, Sarina G Kant, Esther Kinning, Eyby L Leon, Ruth Newbury-Ecob, Stefano Paolacci, Rolph Pfundt, Nicola K Ragge, Tuula Rinne, Claudia Ruivenkamp, Sulagna C Saitta, Yu Sun, Marco Tartaglia, Paulien A Terhal, Anthony J van Essen, Magnus D Vigeland, Bing Xiao, Raoul C Hennekam
In 2016, we described that missense variants in parts of exons 30 and 31 of CREBBP can cause a phenotype that differs from Rubinstein-Taybi syndrome (RSTS). Here we report on another 11 patients with variants in this region of CREBBP (between bp 5,128 and 5,614) and two with variants in the homologous region of EP300. None of the patients show characteristics typical for RSTS. The variants were detected by exome sequencing using a panel for intellectual disability in all but one individual, in whom Sanger sequencing was performed upon clinical recognition of the entity...
April 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29409755/chemical-and-genetic-rescue-of-an-ep300-knockdown-model-for-rubinstein-taybi-syndrome-in-zebrafish
#12
Aswini Babu, Mageshi Kamaraj, Moumita Basu, Debanjan Mukherjee, Shruti Kapoor, Shashi Ranjan, Mahadeva M Swamy, Stephanie Kaypee, Vinod Scaria, Tapas K Kundu, Chetana Sachidanandan
EP300 is a member of the EP300/CBP family of lysine acetyltransferases (KATs) with multiple roles in development and physiology. Loss of EP300/CBP activity in humans causes a very rare congenital disorder called Rubinstein Taybi Syndrome (RSTS). The zebrafish genome has two co-orthologs of lysine acetyltransferase EP300 (KAT3B) in zebrafish viz. ep300a and ep300b. Chemical inhibition of Ep300 with C646, a competitive inhibitor and morpholino-based genetic knockdown of ep300a and ep300b cause defects in embryonic development reminiscent of the human RSTS syndrome...
April 2018: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/29383823/perthes-disease-a-new-finding-in-floating-harbor-syndrome
#13
Donatella Milani, Giulietta Scuvera, Marta Gatti, Gianluca Tolva, Francesca Bonarrigo, Susanna Esposito, Cristina Gervasini
Floating-Harbor Syndrome (FHS; OMIM #136140) is an ultra-rare autosomal dominant genetic condition characterized by expressive language delay, short stature with delayed bone mineralization, a triangular face with a prominent nose, and deep-set eyes, and hand anomalies. First reported in 1973, FHS is associated with mutations in the SRCAP gene, which encodes SNF2-related CREBBP activator protein. Mutations in the CREBBP gene cause Rubinstein-Taybi Syndrome (RSTS; OMIM #180849, #613684), another rare disease characterized by broad thumbs and halluces, facial dysmorphisms, short stature, and intellectual disability, which has a phenotypic overlap with FHS...
March 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29359884/benign-and-malignant-tumors-in-rubinstein-taybi-syndrome
#14
Max V Boot, Martine J van Belzen, Lucy I Overbeek, Nathalie Hijmering, Matias Mendeville, Quinten Waisfisz, Pieter Wesseling, Raoul C Hennekam, Daphne de Jong
Rubinstein-Taybi syndrome (RSTS) is a multiple congenital anomalies syndrome associated with mutations in CREBBP (70%) and EP300 (5-10%). Previous reports have suggested an increased incidence of specific benign and possibly also malignant tumors. We identified all known individuals diagnosed with RSTS in the Netherlands until 2015 (n = 87) and studied the incidence and character of neoplastic tumors in relation to their CREBBP/EP300 alterations. The population-based Dutch RSTS data are compared to similar data of the Dutch general population and to an overview of case reports and series of all RSTS individuals with tumors reported in the literature to date...
March 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29351919/high-yield-of-pathogenic-germline-mutations-causative-or-likely-causative-of-the-cancer-phenotype-in-selected-children-with-cancer
#15
Illja J Diets, Esmé Waanders, Marjolijn J Ligtenberg, Diede A G van Bladel, Eveline J Kamping, Peter M Hoogerbrugge, Saskia Hopman, Maran J Olderode-Berends, Erica H Gerkes, David A Koolen, Carlo Marcelis, Gijs W Santen, Martine J van Belzen, Dylan Mordaunt, Lesley McGregor, Elizabeth Thompson, Antonis Kattamis, Agata Pastorczak, Wojciech Mlynarski, Denisa Ilencikova, Anneke Vulto- van Silfhout, Thatjana Gardeitchik, Eveline S de Bont, Jan Loeffen, Anja Wagner, Arjen R Mensenkamp, Roland P Kuiper, Nicoline Hoogerbrugge, Marjolijn C Jongmans
Purpose: In many children with cancer and characteristics suggestive of a genetic predisposition syndrome, the genetic cause is still unknown. We studied the yield of pathogenic mutations by applying whole-exome sequencing on a selected cohort of children with cancer. Experimental Design: To identify mutations in known and novel cancer-predisposing genes, we performed trio-based whole-exome sequencing on germline DNA of 40 selected children and their parents. These children were diagnosed with cancer and had at least one of the following features: (1) intellectual disability and/or congenital anomalies, (2) multiple malignancies, (3) family history of cancer, or (4) an adult type of cancer...
April 1, 2018: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/29141312/-clinical-manifestation-and-gene-analyses-of-15-patients-with-intellectual-disability-or-developmental-delay-complicated-with-congenital-nystagmus
#16
Z J Gao, Q Jiang, Q Chen, K M Xu, Z Q Liu, X B Chen, X L Chen
Objective: To analyze the clinical and genetic features of 15 cases with intellectual disability or developmental delay (ID/DD) complicated with congenital nystagmus. Method: The clinical characteristics and the results of laboratory tests, images and genetics of 15 patients with ID/DD complicated with congenital nystagmus, confirmed by gene diagnosis in the Department of Neurology, Children's Hospital Affiliated to Capital Institute of Pediatrics from March 2015 to October 2016, were retrospectively analyzed...
November 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/29133209/genome-wide-sequencing-expands-the-phenotypic-spectrum-of-ep300-variants
#17
Gregory Costain, Peter Kannu, Sarah Bowdin
Many disease genes are defined by their role in causing specific clinically recognizable syndromes. Heterozygous loss of function of the gene EP300 is responsible for a minority of cases of Rubinstein-Taybi syndrome (RSTS). With the application of whole-exome sequencing and whole-genome sequencing, there is the potential to discover new genotype-phenotype correlations. The purpose of this case series is to describe three unrelated females without classic manifestations of RSTS who were unexpectedly found on genome-wide sequencing to have likely pathogenic variants in EP300...
March 2018: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29132461/-clinical-features-of-rubinstein-taybi-syndrome-and-novel-mutation-in-the-crebbp-gene-an-analysis-of-one-case
#18
Yuan Li, Shan He, Hong-Ling Zhu
The patient was a girl aged 3 years and 8 months with normal body length and body weight at birth. The girl had feeding difficulty after birth. Her height, body weight, and head circumference were below the 3rd percentile. She had intellectual disability and an unusual facies manifesting as arched shaggy eyebrows, down-slanting palpebral fissures, and broad nasal bridge, but had no a beaked nose, broad thumbs, or big toes. These clinical manifestations were basically consistent with Rubinstein-Taybi syndrome (RSTS)...
November 2017: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/29042334/primary-diffuse-large-b-cell-lymphoma-in-a-patient-with-rubinstein-taybi-syndrome-case-report-and-review-of-the-literature
#19
REVIEW
Christopher Sy, James Henry, Bhavani Kura, Andrew Brenner, Ramesh Grandhi
BACKGROUND: Rubinstein-Taybi syndrome (RSTS) is a rare, congenital syndrome that is known to be associated with neoplasms of various organ systems. Evaluation and treatment of such patients is challenging, given the cognitive delay and heterogeneity of pathologic presentations that define this syndrome. CASE DESCRIPTION: Presented here is a case of a patient with RSTS, diagnosed at birth, who presented with subtle symptoms of lethargy and a change in behavior. He was found to have a large (7...
January 2018: World Neurosurgery
https://www.readbyqxmd.com/read/28748333/evaluation-of-motor-skills-in-children-with-rubinstein-taybi-syndrome
#20
Jean René Cazalets, Emma Bestaven, Emilie Doat, Marie Pierre Baudier, Cécile Gallot, Anouck Amestoy, Manuel Bouvard, Etienne Guillaud, Isabelle Guillain, Emelyne Grech, Julien Van-Gils, Patricia Fergelot, Sonia Fraisse, Emmanuelle Taupiac, Benoit Arveiler, Didier Lacombe
Rubinstein-Taybi syndrome (RTS) is a rare genetic disease that associates intellectual disability with somatic characteristics. We have conducted a study of the overall motor abilities of RTS participants. Static postural performance as well as gait parameters were somewhat decreased, although not significantly compared to typically developing (TD) participants. In contrast, the motor skills requiring a high level of visuomotor coordination were considerably degraded in RTS participants compared to TD participants...
November 2017: Journal of Autism and Developmental Disorders
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