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https://www.readbyqxmd.com/read/29053727/impaired-glucose-metabolism-in-subjects-with-the-williams-beuren-syndrome-a-five-year-follow-up-cohort-study
#1
Maria Elena Lunati, Maria Francesca Bedeschi, Veronica Resi, Valeria Grancini, Eva Palmieri, Simona Salera, Faustina Lalatta, Giuseppe Pugliese, Emanuela Orsi
OBJECTIVE: The Williams-Beuren syndrome (WS) is associated with impaired glucose metabolism (IGM) early in adulthood. However, the pathophysiology of IGM remains poorly defined, due to the lack of longitudinal studies investigating the contribution of β-cell dysfunction and impaired insulin sensitivity. This study aimed at assessing incidence of IGM and the underlying mechanisms in WS adults. METHODS: This observational, longitudinal (5-year), cohort study enrolled thirty-one consecutive WS subjects attending a tertiary referral center...
2017: PloS One
https://www.readbyqxmd.com/read/29045977/-clinical-and-genetic-characteristics-of-williams-beuren-syndrome-2-cases-report
#2
S Q Wang, Z X Yang, H Li
To explore the clinical and genetic characteristics of Williams-Beuren syndrome (WBS) and to raise awareness of the disease. The characteristics of clinical manifestations, personal history, cardiac ultrasound, brain magnetic resonance imaging (MRI), electroencephalogram (EEG) and chromosome detection results of two cases with WBS were analyzed. The two patients were both male and the age was 11 months and 1 day, and 9 months and 9 days, respectively. They both suffered from cardiovascular malformation: case one presented supravalvular aortic stenosis, and case two showed atrial septal defect and patent ductus arteriosus...
October 18, 2017: Beijing da Xue Xue Bao. Yi Xue Ban, Journal of Peking University. Health Sciences
https://www.readbyqxmd.com/read/28979292/drosophila-model-for-the-analysis-of-genesis-of-lim-kinase-1-dependent-williams-beuren-syndrome-cognitive-phenotypes-indels-transposable-elements-of-the-tc1-mariner-superfamily-and-micrornas
#3
Elena V Savvateeva-Popova, Aleksandr V Zhuravlev, Václav Brázda, Gennady A Zakharov, Alena N Kaminskaya, Anna V Medvedeva, Ekaterina A Nikitina, Elena V Tokmatcheva, Julia F Dolgaya, Dina A Kulikova, Olga G Zatsepina, Sergei Y Funikov, Sergei S Ryazansky, Michail B Evgen'ev
Genomic disorders, the syndromes with multiple manifestations, may occur sporadically due to unequal recombination in chromosomal regions with specific architecture. Therefore, each patient may carry an individual structural variant of DNA sequence (SV) with small insertions and deletions (INDELs) sometimes less than 10 bp. The transposable elements of the Tc1/mariner superfamily are often associated with hotspots for homologous recombination involved in human genetic disorders, such as Williams Beuren Syndromes (WBS) with LIM-kinase 1-dependent cognitive defects...
2017: Frontiers in Genetics
https://www.readbyqxmd.com/read/28889126/chromosomal-microarray-analysis-in-fetuses-with-growth-restriction-and-normal-karyotype-a-systematic-review-and-meta-analysis
#4
Antoni Borrell, Maribel Grande, Montse Pauta, Laia Rodriguez-Revenga, Francesc Figueras
OBJECTIVE: To perform a systematic review of the literature and a meta-analysis to estimate the incremental yield of chromosomal microarray analysis (CMA) over karyotyping in fetal growth restriction (FGR). METHODS: This was a systematic review conducted in accordance with the PRISMA criteria. All articles identified in PubMed, Ovid Medline, and ISI Web of Knowledge (Web of Science) from January 2009 to November 2016 describing pathogenic copy number variants (CNVs) in fetuses with growth restriction were included...
September 9, 2017: Fetal Diagnosis and Therapy
https://www.readbyqxmd.com/read/28878606/major-contribution-of-genomic-copy-number-variation-in-syndromic-congenital-heart-disease-the-use-of-mlpa-as-the-first-genetic-test
#5
Rejane A C Monteiro, Mariana L de Freitas, Gabrielle S Vianna, Valdirene T de Oliveira, Rafaella X Pietra, Luana C A Ferreira, Patrícia P O Rocha, Michele da S Gonçalves, Giovana da C César, Joziele de S Lima, Paula F V Medeiros, Juliana F Mazzeu, Fernanda S Jehee
Congenital heart disease (CHD) is the most common congenital disorder among live births. When associated with extracardiac abnormalities, it is characterized as a syndromic heart disease (syndromic CHD) and corresponds to 25% of all liveborn infants with a heart defect. The etiology in about 65% of the cases still remains unknown, and in about 35% of the patients, it is associated with genetic factors. In the present study, MLPA and SNP-array techniques were used to investigate a group of 47 patients with syndromic CHD...
August 2017: Molecular Syndromology
https://www.readbyqxmd.com/read/28776031/structural-variants-in-genes-associated-with-human-williams-beuren-syndrome-underlie-stereotypical-hypersociability-in-domestic-dogs
#6
Bridgett M vonHoldt, Emily Shuldiner, Ilana Janowitz Koch, Rebecca Y Kartzinel, Andrew Hogan, Lauren Brubaker, Shelby Wanser, Daniel Stahler, Clive D L Wynne, Elaine A Ostrander, Janet S Sinsheimer, Monique A R Udell
Although considerable progress has been made in understanding the genetic basis of morphologic traits (for example, body size and coat color) in dogs and wolves, the genetic basis of their behavioral divergence is poorly understood. An integrative approach using both behavioral and genetic data is required to understand the molecular underpinnings of the various behavioral characteristics associated with domestication. We analyze a 5-Mb genomic region on chromosome 6 previously found to be under positive selection in domestic dog breeds...
July 2017: Science Advances
https://www.readbyqxmd.com/read/28747993/adolescent-adaptive-behavior-profiles-in-williams-beuren-syndrome-down-syndrome-and-autism-spectrum-disorder
#7
Carolina Grego Del Cole, Sheila Cavalcante Caetano, Wagner Ribeiro, Arthur Melo E E Kümmer, Andrea Parolin Jackowski
BACKGROUND: Adaptive behavior can be impaired in different neurodevelopmental disorders and may be influenced by confounding factors, such as intelligence quotient (IQ) and socioeconomic classification. Our main objective was to verify whether adaptive behavior profiles differ in three conditions-Williams Beuren syndrome (WBS), Down syndrome (DS), and autism spectrum disorder (ASD), as compared with healthy controls (HC) and with each other. Although the literature points towards each disorder having a characteristic profile, no study has compared profiles to establish the specificity of each one...
2017: Child and Adolescent Psychiatry and Mental Health
https://www.readbyqxmd.com/read/28691460/the-%C3%A2-elfin-face%C3%A2-craniofacial-and-dental-aspects-of-the-williams-beuren-syndrome
#8
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/28626595/williams-beuren-syndrome-and-congenital-lobar-emphysema-uncommon-association-with-common-pathology
#9
Timothy Andrew Walsh, Krishna Revanna Gopagondanahalli, Atul Malhotra
INTRODUCTION: Congenital lobar emphysema (CLE) and Williams-Beuren Syndrome are two rare conditions that have only been reported together in a single case study. CASE PRESENTATION: We report another case of a male Caucasian newborn with nonspecific initial respiratory distress, with detection of CLE on repeat chest X-ray on Day 25 of life and concurrent ventricular septal defect, supravalvular aortic stenosis, and branch pulmonary stenosis, in whom a 7q11.23 deletion consistent with Williams-Beuren Syndrome was made...
2017: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/28608466/crystal-structure-of-human-wbscr16-an-rcc1-like-protein-in-mitochondria
#10
Masako Koyama, Taeko Sasaki, Narie Sasaki, Yoshiyuki Matsuura
WBSCR16 (Williams-Beuren Syndrome Chromosomal Region 16) gene is located in a large deletion region of Williams-Beuren syndrome (WBS), which is a neurodevelopmental disorder. Although the relationship between WBSCR16 and WBS remains unclear, it has been reported that WBSCR16 is a member of a functional module that regulates mitochondrial 16S rRNA abundance and intra-mitochondrial translation. WBSCR16 has RCC1 (Regulator of Chromosome Condensation 1)-like amino acid sequence repeats but the function of WBSCR16 appears to be different from that of other RCC1 superfamily members...
September 2017: Protein Science: a Publication of the Protein Society
https://www.readbyqxmd.com/read/28584589/computerized-tomography-use-in-williams-beuren-syndrome-aortopathy
#11
Neale Nicola Kalis, Leena Khalifa Sulaibikh, Saud Rashid Al Amer, Haya Yousif Al Amer
Williams-Beuren syndrome is a multisystem genetic disorder caused by hemizygous deletion on chromosome 7q11.23, encompassing about 28 genes including the elastin gene, ELN. Cardiovascular abnormalities are frequent and are related to elastin insufficiency. These abnormalities include supravalvular aortic stenosis (SVAS) in 70% of case, pulmonic valve stenosis, and renal artery stenosis. Definitive therapy for supravalvar aortic stenosis consists of surgical correction of the arteriopathies. Outcomes after surgical correction of SVAS depend on the extent of the arteriopathy and the presence of other associated lesions...
January 2017: Heart Views: the Official Journal of the Gulf Heart Association
https://www.readbyqxmd.com/read/28574231/a-new-diagnosis-of-williams-beuren-syndrome-in-a-49-year-old-man-with-severe-bullous-emphysema
#12
Monica H Wojcik, Nikkola Carmichael, Frederick R Bieber, Daniel C Wiener, Rachna Madan, Barbara R Pober, Benjamin A Raby
Williams-Beuren syndrome (WBS) is a chromosomal microdeletion syndrome typically presenting with intellectual disability, a unique personality, a characteristic facial appearance, and cardiovascular disease. Several clinical features of WBS are thought to be due to haploinsufficiency of elastin (ELN), as the ELN locus is included within the WBS critical region at 7q11.23. Emphysema, a disease attributed to destruction of pulmonary elastic fibers, has been reported in patients without WBS who have pathogenic variants in ELN but only once (in one patient) in WBS...
August 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28503444/keratoconus-associated-with-williams-beuren-syndrome-a-new-case-report
#13
Soraya Mediero, Oriana D'Anna Mardero, Ana Boto de Los Bueis, Susana Noval Martín, Sixto García-Miñaur
No abstract text is available yet for this article.
2017: International Journal of Ophthalmology
https://www.readbyqxmd.com/read/28443262/a-rare-association-of-central-hypothyroidism-and-adrenal-insufficiency-in-a-boy-with-williams-beuren-syndrome
#14
Devi Dayal, Dinesh Giri, Senthil Senniappan
Primary hypothyroidism related to morphological and volumetric abnormalities of the thyroid gland is one of the commonest of several endocrine dysfunctions in Williams-Beuren syndrome (WBS). We report a 10-month-old boy with WBS who presented with central hypothyroidism. During the neonatal period, he had prolonged jaundice, feeding difficulties and episodes of colic that continued during early infancy. Additionally, there was slowing of growth and mild developmental delay. He underwent surgical repair for supravalvular aortic stenosis at 6 months of age...
March 2017: Annals of Pediatric Endocrinology & Metabolism
https://www.readbyqxmd.com/read/28397211/-application-of-chromosomal-microarray-analysis-for-the-diagnosis-of-children-with-intellectual-disability-developmental-delay-and-a-normal-karytype
#15
Ting Hu, Hongmei Zhu, Zhu Zhang, Jiamin Wang, Hongqian Liu, Xuemei Zhang, Haixia Zhang, Ze Du, Lingping Li, He Wang, Shanling Liu
OBJECTIVE: To assess the value of chromosomal microarray analysis (CMA) for the diagnosis of children with intellectual disability/developmental delay (ID/DD) but a normal karytype. METHODS: Peripheral blood samples from 92 ID/DD patients were analyzed with CMA using Affymetrix CytoScan 750K arrays. The results were analyzed by ChAS v3.0 software. RESULTS: Eighteen cases (19.57%) were detected with abnormalities by CMA, among which 10 cases were diagnosed with microdeletion/microduplication syndromes...
April 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28350066/dna-damage-response-defect-in-williams-beuren-syndrome
#16
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/28277377/de-novo-williams-beuren-and-inherited-marfan-syndromes-in-a-patient-with-developmental-delay-and-lens-dislocation
#17
Magdalena Budisteanu, Sorina M Papuc, Andreea C Tutulan-Cunita, Bogdan Budisteanu, Eva Weis, Aurora Arghir, Ulrich Zechner, Oliver Bartsch
No abstract text is available yet for this article.
July 2017: Clinical Dysmorphology
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
#18
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
#19
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/28009100/rare-copy-number-variants-in-a-population-based-investigation-of-hypoplastic-right-heart-syndrome
#20
Aggeliki Dimopoulos, Robert J Sicko, Denise M Kay, Shannon L Rigler, Charlotte M Druschel, Michele Caggana, Marilyn L Browne, Ruzong Fan, Paul A Romitti, Lawrence C Brody, James L Mills
BACKGROUND: Hypoplastic right heart syndrome (HRHS) is a rare congenital defect characterized by underdevelopment of the right heart structures commonly accompanied by an atrial septal defect. Familial HRHS reports suggest genetic factor involvement. We examined the role of copy number variants (CNVs) in HRHS. METHODS: We genotyped 32 HRHS cases identified from all New York State live births (1998-2005) using Illumina HumanOmni2.5 microarrays. CNVs were called with PennCNV and prioritized if they were ≥20 Kb, contained ≥10 SNPs and had minimal overlap with CNVs from in-house controls, the Database of Genomic Variants, HapMap3, and Childrens Hospital of Philadelphia database...
January 20, 2017: Birth defects research
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