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Williams syndrome mental retardation

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https://www.readbyqxmd.com/read/28691460/the-%C3%A2-elfin-face%C3%A2-craniofacial-and-dental-aspects-of-the-williams-beuren-syndrome
#1
V Maurino, L Azzi, R Vinci, F Croveri, A Boggio, J Silvestre-Rangil, L Tettamanti, A Tagliabue
Williams Syndrome is a rare congenital disorder characterized by supravalvular aortic stenosis, peripheral pulmonary artery stenosis, mental retard and dysmorfic facial features. As regards the dental aspects of the syndrome, the deletion of the elastin gene induced clinicians to suspect periodontal alterations with a greater frequency of gingivo-periodontitis, but on the contrary no association between the syndrome and periodontal diseases have been found. Furthermore, patients show a higher frequency of teeth hypoplasia, an abnormal tooth morphology during primary dentition (12...
April 2017: Journal of Biological Regulators and Homeostatic Agents
https://www.readbyqxmd.com/read/28652410/prefrontal-cortex-dysfunction-in-fragile-x-mice-depends-on-the-continued-absence-of-fragile-x-mental-retardation-protein-in-the-adult-brain
#2
Jennifer J Siegel, Raymond A Chitwood, James M Ding, Clayton Payne, William Taylor, Richard Gray, Boris V Zemelman, Daniel Johnston
Fragile X Syndrome (FX) is generally considered a developmental disorder, arising from a mutation that disrupts the transcription of Fragile X Mental Retardation Protein (FMRP). However, FMRP regulates the transcription of other proteins and participates in an unknown number of protein-protein interactions throughout life. In addition to known developmental issues, it is thus likely that some dysfunction is also due to the ongoing absence of FMRP. Dissociating dysfunction due to developmental dysregulation from dysfunction due to the continued absence of FMRP is necessary to understand the different roles of FMRP and to treat patients effectively throughout life...
August 2, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28350066/dna-damage-response-defect-in-williams-beuren-syndrome
#3
David Guenat, Giuseppe Merla, Eric Deconinck, Christophe Borg, Pierre-Simon Rohrlich
Williams-Beuren syndrome (WBS, no. OMIM 194050) is a rare multisystem genetic disorder caused by a microdeletion on chromosome 7q11.23 and characterized by cardiovascular malformations, mental retardation, and a specific facial dysmorphism. Recently, we reported that a series of non‑Hodgkin's lymphoma occurs in children with WBS and thus hypothesized that a predisposition to cancer may be associated with this genetic disorder. The aim of the present study was to ascertain the role played by three genes hemizygously deleted in WBS (RFC2, GTF2I and BAZ1B) in DNA damage response pathways...
January 17, 2017: International Journal of Molecular Medicine
https://www.readbyqxmd.com/read/28259930/high-resolution-single-nucleotide-polymorphism-arrays-identified-an-atypical-microdeletion-of-the-williams-beuren-syndrome-interval-in-a-patient-presenting-with-a-different-phenotype
#4
Shijun Hu, Yifeng Yang, Lin Liu, Zhiping Tan, Tianli Zhao
The present study aimed to identify the mutation causing an atypical syndrome. High-resolution single nucleotide polymorphism (SNP) arrays are considered to be a major detection method for submicroscopic chromosomal rearrangements smaller than 5 Mb in size. Genomic DNA samples of the patient and his parents were converted to a final concentration of 50 ng/ml. The Illumina BeadScan genotyping system and the HumanOmni1‑Quad Chip were employed to obtain the signal intensities of SNP probes. The patient presented with congenital heart disease, autism, mental retardation, growth retardation, hypercalcemia, nephroliths and cleft palate...
May 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28098859/dna-damage-response-defect-in-williams-beuren-syndrome
#5
David Guenat, Giuseppe Merla, Eric Deconinck, Christophe Borg, Pierre-Simon Rohrlich
Williams-Beuren syndrome (WBS, no. OMIM 194050) is a rare multisystem genetic disorder caused by a microdeletion on chromosome 7q11.23 and characterized by cardiovascular malformations, mental retardation, and a specific facial dysmorphism. Recently, we reported that a series of non‑Hodgkin's lymphoma occurs in children with WBS and thus hypothesized that a predisposition to cancer may be associated with this genetic disorder. The aim of the present study was to ascertain the role played by three genes hemizygously deleted in WBS (RFC2, GTF2I and BAZ1B) in DNA damage response pathways...
March 2017: International Journal of Molecular Medicine
https://www.readbyqxmd.com/read/27455008/-application-of-single-nucleotide-polymorphism-array-for-the-diagnosis-of-williams-beuren-syndrome-in-a-case
#6
Jiao Li, Juan Du, Huayu Fu, Jin Wang, Zhou Yu
OBJECTIVE: To apply single nucleotide polymorphism array (SNP-array) for the diagnosis of Williams-Beuren syndrome (WBS) in a patient. METHODS: Chromosome G-banding and SNP-array were used to analyze a girl featuring mental retardation. RESULTS: The karyotypes of the child and her parents were all normal, but SNP-array showed a 1.9 Mb deletion at 7q11.23 in the patient. The same deletion was not found in her parents. CONCLUSION: The mental retardation and special facies of the girl were probably due to the 7q11...
August 2016: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/26908836/clinical-course-of-sly-syndrome-mucopolysaccharidosis-type-vii
#7
Adriana M Montaño, Ngu Lock-Hock, Robert D Steiner, Brett H Graham, Marina Szlago, Robert Greenstein, Mercedes Pineda, Antonio Gonzalez-Meneses, Mahmut Çoker, Dennis Bartholomew, Mark S Sands, Raymond Wang, Roberto Giugliani, Alfons Macaya, Gregory Pastores, Anastasia K Ketko, Fatih Ezgü, Akemi Tanaka, Laila Arash, Michael Beck, Rena E Falk, Kaustuv Bhattacharya, José Franco, Klane K White, Grant A Mitchell, Loreta Cimbalistiene, Max Holtz, William S Sly
BACKGROUND: Mucopolysaccharidosis VII (MPS VII) is an ultra-rare disease characterised by the deficiency of β-glucuronidase (GUS). Patients' phenotypes vary from severe forms with hydrops fetalis, skeletal dysplasia and mental retardation to milder forms with fewer manifestations and mild skeletal abnormalities. Accurate assessments on the frequency and clinical characteristics of the disease have been scarce. The aim of this study was to collect such data. METHODS: We have conducted a survey of physicians to document the medical history of patients with MPS VII...
June 2016: Journal of Medical Genetics
https://www.readbyqxmd.com/read/26772998/zfrp8-forms-a-complex-with-fragile-x-mental-retardation-protein-and-regulates-its-localization-and-function
#8
William Tan, Curtis Schauder, Tatyana Naryshkina, Svetlana Minakhina, Ruth Steward
Fragile-X syndrome is the most commonly inherited cause of autism and mental disabilities. The Fmr1 (Fragile-X Mental Retardation 1) gene is essential in humans and Drosophila for the maintenance of neural stem cells, and Fmr1 loss results in neurological and reproductive developmental defects in humans and flies. FMRP (Fragile-X Mental Retardation Protein) is a nucleo-cytoplasmic shuttling protein, involved in mRNA silencing and translational repression. Both Zfrp8 and Fmr1 have essential functions in the Drosophila ovary...
February 15, 2016: Developmental Biology
https://www.readbyqxmd.com/read/26734123/diagnostic-path-of-a-genetic-disease-a-case-of-williams-beuren-syndrome-in-burkina-faso
#9
Makoura Barro, Bintou Sanogo, Aimée S Kissou, Ad Bafa Ibrahim Ouattara, Boubacar Nacro
Williams-Beuren syndrome (WBS) is a rare neurodevelopmental disorder characterized by a set of somatic, psychological, and behavioral abnormalities, which is caused by a deletion of several genes. Herein we report a 6 year-old boy, who presented with mental retardation and psychological disorders. The result of the first clinical examination was poor, since it didn't detect any dysmorphic feature which is a major component for the clinical diagnosis of WBS. Despite the multidisciplinary and the multicenter approaches used, the diagnosis of WBS (deletion of chromosome band 7q11...
December 9, 2015: Pediatric Reports
https://www.readbyqxmd.com/read/26563674/the-immune-phenotype-of-patients-with-charge-syndrome
#10
COMPARATIVE STUDY
Peter Hsu, Alan Ma, Elizabeth H Barnes, Meredith Wilson, Lies H Hoefsloot, Tuula Rinne, Craig Munns, George Williams, Melanie Wong, Sam Mehr
BACKGROUND: Recurrent sinopulmonary infections are common in children with CHARGE (Coloboma, Heart disease, choanal Atresia, growth/mental Retardation, Genitourinary malformations, Ear abnormalities) syndrome, but no prospective studies on immune function have been conducted. OBJECTIVE: This study aims to examine and compare the immune phenotype of patients with CHARGE syndrome to those with 22q11.2 deletion and healthy controls. METHODS: A total of 21 patients attended a multidisciplinary CHARGE clinic...
January 2016: Journal of Allergy and Clinical Immunology in Practice
https://www.readbyqxmd.com/read/26412477/fragile-x-mental-retardation-protein-interactions-with-a-g-quadruplex-structure-in-the-3-untranslated-region-of-nr2b-mrna
#11
Snezana Stefanovic, Brett A DeMarco, Ayana Underwood, Kathryn R Williams, Gary J Bassell, Mihaela Rita Mihailescu
Fragile X syndrome, the most common cause of inherited intellectual disability, is caused by a trinucleotide CGG expansion in the 5'-untranslated region of the FMR1 gene, which leads to the loss of expression of the fragile X mental retardation protein (FMRP). FMRP, an RNA-binding protein that regulates the translation of specific mRNAs, has been shown to bind a subset of its mRNA targets by recognizing G quadruplex structures. It has been suggested that FMRP controls the local protein synthesis of several protein components of the post synaptic density (PSD) in response to specific cellular needs...
December 2015: Molecular BioSystems
https://www.readbyqxmd.com/read/26321847/dental-management-of-patient-with-williams-syndrome-a-case-report
#12
Daniel Wong, Srinivas Sulugodu Ramachandra, Ashish Kumar Singh
Williams syndrome is a multisystemic rare genetic disorder caused by deletion of 26-28 genes in the long arm of chromosome 7. It is characterized by developmental and physical abnormalities including congenital cardiovascular abnormalities, mental retardation, neurological features, growth deficiency, genitourinary manifestations, gastrointestinal problems, musculoskeletal problems, unique behavioral characteristics, and dental problems. Dental abnormalities include malocclusion, hypodontia, malformed teeth, taurodontism, pulp stones, increased space between teeth, enamel hypoplasia, and high prevalence of dental caries...
July 2015: Contemporary Clinical Dentistry
https://www.readbyqxmd.com/read/26275350/the-nuclear-localization-pattern-and-interaction-partners-of-gtf2ird1-demonstrate-a-role-in-chromatin-regulation
#13
Paulina Carmona-Mora, Jocelyn Widagdo, Florence Tomasetig, Cesar P Canales, Yeojoon Cha, Wei Lee, Abdullah Alshawaf, Mirella Dottori, Renee M Whan, Edna C Hardeman, Stephen J Palmer
GTF2IRD1 is one of the three members of the GTF2I gene family, clustered on chromosome 7 within a 1.8 Mb region that is prone to duplications and deletions in humans. Hemizygous deletions cause Williams-Beuren syndrome (WBS) and duplications cause WBS duplication syndrome. These copy number variations disturb a variety of developmental systems and neurological functions. Human mapping data and analyses of knockout mice show that GTF2IRD1 and GTF2I underpin the craniofacial abnormalities, mental retardation, visuospatial deficits and hypersociability of WBS...
October 2015: Human Genetics
https://www.readbyqxmd.com/read/26252101/-diagnosis-of-a-case-with-williams-beuren-syndrome-by-single-nucleotide-polymorphism-array
#14
Yuxia Jin, Xia Liu, Suping Li, Jiamei Ge, Xiufang Wu, Qinhao Song, Chiyan Zhou, Zhengyou Miao
OBJECTIVE: To explore the genetic cause for a child with mental retardation, developmental delay and multi-systemic developmental disorders by analyzing the copy number variations (CNVs) and correlating the genotype with the phenotype. METHODS: Routine G-banding was performed to analyze the karyotype of the patient and her parents. In addition, single nucleotide polymorphisms array (SNP-array) was used to determine the CNVs, which was confirmed by fluorescence in situ hybridization (FISH)...
August 2015: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/26224992/a-case-study-of-early-development-in-williams-syndrome-implications-for-early-intervention
#15
Susan Hepburn, Amy Philofsky, Angela John, Deborah J Fidler
The aim of this article is to provide an in-depth description of the behavioral phenotype of Williams syndrome in a preschool-aged child. Williams syndrome is a neurodevelopmental, multisystem genetic disorder associated with mental retardation that predisposes individuals to a characteristic pattern of strengths and weaknesses in neuropsychological functioning. While much is known about functioning in adults, very few descriptions of early development are available in the literature. Implications for designing early intervention programs for children with this debilitating disorder are discussed...
July 2005: Infants and Young Children
https://www.readbyqxmd.com/read/26206688/routine-chromosomal-microarray-analysis-is-necessary-in-korean-patients-with-unexplained-developmental-delay-mental-retardation-autism-spectrum-disorder
#16
Saeam Shin, Nae Yu, Jong Rak Choi, Seri Jeong, Kyung A Lee
BACKGROUND: All over the world, chromosomal microarray (CMA) is now the first tier diagnostic assay for genetic testing to evaluate developmental delay (DD), mental retardation (MR), and autism spectrum disorder (ASD) with unknown etiology. The average diagnostic yield of the CMA test is known to be about 12.2%, while that of conventional G-banding karyotype is below 3%. This study aimed to assess the usefulness of CMA for the purpose of clinical diagnostic testing in the Korean population...
September 2015: Annals of Laboratory Medicine
https://www.readbyqxmd.com/read/26200160/oral-findings-and-dental-treatment-in-a-child-with-williams-beuren-syndrome
#17
Carolina Paes Torres, Gleice Valadares, Mariana Izabella Martins, Maria Cristina Borsatto, Kranya Victoria Díaz-Serrano, Alexandra Mussolino de Queiroz
Williams-Beuren syndrome (WBS), also known as Williams syndrome, is a rare congenital disorder involving cardiovascular problems, mental retardation, distinctive facial features and tooth anomalies. It is caused by the submicroscopic deletion of 1.5 to 1.8 Mb on chromosome 7q11.23. This paper reports the dental care to a 7-year-old child with WBS syndrome. The interview also revealed visual impairment, sensorineural hearing loss, hyperacusis, photophobia and hoarse voice. The intraoral clinical examination showed anterior open bite, tongue thrusting, excessive interdental spacing, enamel hypomineralization of the incisors, hypoplasia and caries lesions...
May 2015: Brazilian Dental Journal
https://www.readbyqxmd.com/read/26143126/bilateral-vocal-cord-paralysis-and-hypothyroidism-as-presenting-symptoms-of-williams-beuren-syndrome-a-case-report
#18
Ilana Koren, Ira Kessel, Avi Rotschild, Raanan Cohen-Kerem
Williams-Beuren syndrome is a rare neurodevelopmental disorder caused by deletion of 1.5-1.8Mb genes on chromosome 7q11.23. The syndrome was first described as a triad of supra-valvular aortic stenosis, mental retardation, and distinctive facial features. Our patient was referred due to audible inspiratory stridor when he was seven days old. Following endoscopy he was diagnosed with bilateral vocal cord paralysis and was eventually intubated due to respiratory de-compensation followed by tracheotomy. On further workup he was diagnosed with hypothyroidism...
September 2015: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/26137640/-neurogenetics-and-neuroepigenetics
#19
REVIEW
E V Savvateeva-Popova, E A Nikitina, A V Medvedeva
"Genetics of behavior," or "Neurogenetics," is based on the evolutionary ideas of T. Dobzhansky on brain development and behavior. It continues with the "experimental genetics of higher nervous activity" of I. Pavlov and uses a comparative approach in the study of heredity and variation in behavioral manifestations, from Protozoa to humans. The study of the classical Pavlovian conditioned reflex in mutant Drosophila helped to identify the main types of memory and their evolutionary conservatism. Long-term memory defects are caused by mutations of the same genes as in mental, retardation in humans, when signaling cascades intersecting with the cAMP-dependent pathway are damaged...
May 2015: Genetika
https://www.readbyqxmd.com/read/26105714/-the-importance-of-thyroid-hormone-transporters
#20
REVIEW
Doreen Braun
Symptoms of a newly discovered X-chromosomal severe mental retardation disease were published by William Allan, Nash Herndon and Florence Dudley in 1944. Patients suffered from muscle weakness and a developmental delay not able to sit, walk and speak. In addition, they showed an endocrinological phenotype with abnormal thyroid hormone constellations. The reason for the Allan-Herndon-Dudley syndrome was found in a mutation of the monocarboxylate transporter 8 (MCT8, SLC16A2), a specific thyroid hormone transporter...
2015: Nuklearmedizin. Nuclear Medicine
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