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https://www.readbyqxmd.com/read/28331219/intragenic-multi-exon-deletion-in-the-fbn1-gene-in-a-child-with-mildly-dilated-aortic-sinus-a-retrotransposal-event
#1
Maggie Brett, George Korovesis, Angeline H M Lai, Eileen C P Lim, Ene-Choo Tan
Marfan syndrome is an autosomal dominant disorder affecting mainly the skeletal, ocular and cardiovascular systems. Most cases are caused by mutations in the fibrillin-1 gene (FBN1), although there are some reports on deletions involving FBN1 and other additional genes. We report a male patient who was first evaluated at 4 years of age. Echocardiogram showed a mildly dilated aortic sinus. He also had a history of muscular ventral septal defect which was closed spontaneously and trivial mitral regurgitation...
March 23, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28327575/analysis-of-exome-data-for-4293-trios-suggests-gpi-anchor-biogenesis-defects-are-a-rare-cause-of-developmental-disorders
#2
Alistair T Pagnamenta, Yoshiko Murakami, John M Taylor, Consuelo Anzilotti, Malcolm F Howard, Venessa Miller, Diana S Johnson, Shereen Tadros, Sahar Mansour, I Karen Temple, Rachel Firth, Elisabeth Rosser, Rachel E Harrison, Bronwen Kerr, Niko Popitsch, Taroh Kinoshita, Jenny C Taylor, Usha Kini
Over 150 different proteins attach to the plasma membrane using glycosylphosphatidylinositol (GPI) anchors. Mutations in 18 genes that encode components of GPI-anchor biogenesis result in a phenotypic spectrum that includes learning disability, epilepsy, microcephaly, congenital malformations and mild dysmorphic features. To determine the incidence of GPI-anchor defects, we analysed the exome data from 4293 parent-child trios recruited to the Deciphering Developmental Disorders (DDD) study. All probands recruited had a neurodevelopmental disorder...
March 22, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28306397/public-views-on-genetics-and-genetic-testing-a-survey-of-the-general-public-in-belgium
#3
Davit Chokoshvili, Carmen Belmans, Roxanne Poncelet, Sofie Sanders, Deborah Vaes, Danya Vears, Sandra Janssens, Isabelle Huys, Pascal Borry
AIMS: To explore the views of the Belgian public on various topics surrounding genetics and genetic testing (GT). MATERIALS AND METHODS: A written questionnaire was administered to visitors of the annual cartoon festival in Knokke-Heist, Belgium, during the summer of 2014. The main theme of the festival was challenges and progress in human genetics and it was attended by more than 100,000 visitors. RESULTS: The survey was completed by 1182 respondents, resulting in a demographically diverse sample with a mean age of 48...
March 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28291539/the-role-of-brain-derived-neurotrophic-factor-and-its-single-nucleotide-polymorphisms-in-stroke-patients
#4
REVIEW
Dariusz Kotlęga, Barbara Peda, Agnieszka Zembroń-Łacny, Monika Gołąb-Janowska, Przemysław Nowacki
Stroke is the main cause of motoric and neuropsychological disability in adults. Recent advances in research into the role of the brain-derived neurotrophic factor in neuroplasticity, neuroprotection and neurogenesis might provide important information for the development of new poststroke-rehabilitation strategies. It plays a role as a mediator in motor learning and rehabilitation after stroke. Concentrations of BDNF are lower in acute ischemic-stroke patients compared to controls. Lower levels of BDNF are correlated with an increased risk of stroke, worse functional outcomes and higher mortality...
March 6, 2017: Neurologia i Neurochirurgia Polska
https://www.readbyqxmd.com/read/28256686/-neuroplasticity-synaptogenesis-during-normal-development-and-its-implication-in-intellectual-disability
#5
M Martinez-Morga, S Martinez
Neuroplasticity is the biological capacity of the nervous system to modify its structure and functioning to adapt to both physiological and pathological variations in the environment. Its main physiological consequences are learning and memory, and its pathological outcome is neurological rehabilitation. The continuous change and initial fragility of the developing brain make the embryonic and foetal periods especially plastic (what is known as developmental neuroplasticity). The progressive reduction in plasticity, however, is never complete and the capacity to modify the brain circuits in response to new learning (adaptive neuroplasticity) or brain injuries (reactive neuroplasticity) remains throughout the individual's entire lifespan...
February 24, 2017: Revista de Neurologia
https://www.readbyqxmd.com/read/28256045/two-cases-of-legg-perthes-and-intellectual-disability-in-tricho-rhino-phalangeal-syndrome-type-1-associated-with-novel-trps1-mutations
#6
Jordana L Gilman, Heather A Newman, Rebecca Freeman, Kathryn E Singh, Rebecca L Puckett, David K Morohashi, Constance Stein, Kathryn Palomino, Robert Roger Lebel, Virginia E Kimonis
Tricho-Rhino-Phalangeal syndrome is a rare autosomal dominant genetic disorder caused by mutations in the TRPS1 gene. This malformation syndrome is characterized by distinctive craniofacial features including sparse scalp hair, bulbous tip of the nose, long flat philtrum, thin upper vermilion border, and protruding ears. Skeletal abnormalities include cone-shaped epiphyses at the phalanges, hip malformations, and short stature. In this report, we describe two patients with the physical manifestations and genotype of TRPS type I but with learning/intellectual disability not typically described as part of the syndrome...
March 3, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28229379/a-novel-frameshift-mutation-in-the-sterol-27-hydroxylase-gene-in-an-egyptian-family-with-cerebrotendinous-xanthomatosis-without-cataract
#7
Mohamed S Abdel-Hamid, Mahmoud Y Issa, Ghada A Otaify, Maha S Zaki
Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive lipid storage disorder caused by deficiency of the mitochondrial cytochrome P450 sterol 27-hydroxylase enzyme encoded by CYP27A1 gene. CTX is characterized by tendon xanthomas, juvenile cataracts and multiple progressive neurological symptoms. Here we report on the clinical and molecular findings of a 35-years old Egyptian patient with CTX without cataract. Parents were first cousins with family history of two deceased sibs with mild impaired cognitive functions and epilepsy without appearance of tendon xanthomas...
April 2017: Metabolic Brain Disease
https://www.readbyqxmd.com/read/28176280/stepwise-casr-ap2s1-and-gna11-sequencing-in-patients-with-suspected-familial-hypocalciuric-hypercalcemia
#8
Auryan Szalat, Shoshana Shpitzen, Anat Tsur, Ilana Zalmon Koren, Shmuel Shilo, Liana Tripto-Shkolnik, Ronen Durst, Eran Leitersdorf, Vardiella Meiner
PURPOSE: Patients with familial hyperparathyroidism and low urinary calcium excretion may have familial hypocalciuric hypercalcemia (FHH) with mutations in one of three genes: the calcium-sensing receptor (CaSR) defining FHH-type 1, the adaptor-related protein complex 2 (AP2S1) related to FHH-type 3 or the G-protein subunit alpha11 (GNA11) associated with FHH-type 2. We aimed to evaluate the presence of mutations in these genes and to identify phenotypic specificities and differences in these patients...
February 7, 2017: Endocrine
https://www.readbyqxmd.com/read/28161297/signaling-of-noncomprehension-in-communication-breakdowns-in-fragile-x-syndrome-down-syndrome-and-autism-spectrum-disorder
#9
Gary E Martin, Jamie Barstein, Jane Hornickel, Sara Matherly, Genna Durante, Molly Losh
The ability to indicate a failure to understand a message is a critical pragmatic (social) language skill for managing communication breakdowns and supporting successful communicative exchanges. The current study examined the ability to signal noncomprehension across different types of confusing message conditions in children and adolescents with fragile X syndrome (FXS), Down syndrome (DS), autism spectrum disorder (ASD), and typical development (TD). Controlling for nonverbal mental age and receptive vocabulary skills, youth with comorbid FXS and ASD and those with DS were less likely than TD controls to signal noncomprehension of confusing messages...
January 2017: Journal of Communication Disorders
https://www.readbyqxmd.com/read/28145167/-our-nurse-has-been-an-amazing-advocate-for-our-non-verbal-child
#10
(no author information available yet)
My son Conor is an 11-year-old boy with a rare genetic condition called Cornelia de Lange Syndrome and complex needs. We have encountered many medical and nursing staff on our journey, but learning disability community nurse Lisa Harris, who works for the Western Health and Social Care Trust in Derry, Northern Ireland, stands out.
February 1, 2017: Nursing Standard
https://www.readbyqxmd.com/read/28143899/a-missense-mutation-in-the-crbn-gene-that-segregates-with-intellectual-disability-and-self-mutilating-behaviour-in-a-consanguineous-saudi-family
#11
Atia Sheereen, Manal Alaamery, Shahad Bawazeer, Yusra Al Yafee, Salam Massadeh, Wafaa Eyaid
BACKGROUND: Autosomal-recessive non-syndromic intellectual disability (ARNS-ID) is an aetiologically heterogeneous disorder. Although little is known about the function of human cereblon (CRBN), its relationship to mild cognitive deficits suggests that it is involved in the basic processes of human memory and learning. OBJECTIVES: We aim to identify the genetic cause of intellectual disability and self-mutilation in a consanguineous Saudi family with five affected members...
January 31, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28143435/genetic-characterization-of-italian-patients-with-bardet-biedl-syndrome-and-correlation-to-ocular-renal-and-audio-vestibular-phenotype-identification-of-eleven-novel-pathogenic-sequence-variants
#12
Gabriella Esposito, Francesco Testa, Miriam Zacchia, Anna Alessia Crispo, Valentina Di Iorio, Giovanna Capolongo, Luca Rinaldi, Marcella D'Antonio, Tiziana Fioretti, Pasquale Iadicicco, Settimio Rossi, Annamaria Franzè, Elio Marciano, Giovanbattista Capasso, Francesca Simonelli, Francesco Salvatore
BACKGROUND: Bardet-Biedl syndrome (BBS) is a rare genetic disorder that features retinal degeneration, obesity, polydactyly, learning disabilities and renal abnormalities. The diagnosis is often missed at birth, the median age at diagnosis being 9 years. In the attempt to shed light on BBS and improve its diagnosis and treatment, we evaluated the genotype-phenotype relationship in patients with a molecular diagnosis of BBS. METHODS: We analyzed three common BBS genes, BBS1, BBS10 and BBS2, in 25 Italian patients fulfilling the clinical criteria of BBS...
February 1, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28123174/new-diagnosis-of-atypical-ataxia-telangiectasia-in-a-17-year-old-boy-with-t-cell-acute-lymphoblastic-leukemia-and-a-novel-atm-mutation
#13
Jasmin Roohi, Jennifer Crowe, Denis Loredan, Kwame Anyane-Yeboa, Mahesh M Mansukhani, Lenore Omesi, Jennifer Levine, Anya Revah Politi, Shan Zha
Ataxia-telangiectasia (A-T) is an autosomal recessive chromosome breakage disorder caused by mutations in the ATM gene. Typically, it presents in early childhood with progressive cerebellar dysfunction along with immunodeficiency and oculocutaneous telangiectasia. An increased risk of malignancy is also associated with the syndrome and, rarely, may be the presenting feature in small children. We describe a 17-year-old boy with slurred speech, mild motor delays and learning disability diagnosed with atypical A-T in the setting of T-cell acute lymphoblastic leukemia...
January 26, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28074887/association-analysis-of-dyslexia-candidate-genes-in-a-dutch-longitudinal-sample
#14
Amaia Carrion-Castillo, Ben Maassen, Barbara Franke, Angelien Heister, Marlies Naber, Aryan van der Leij, Clyde Francks, Simon E Fisher
Dyslexia is a common specific learning disability with a substantive genetic component. Several candidate genes have been proposed to be implicated in dyslexia susceptibility, such as DYX1C1, ROBO1, KIAA0319, and DCDC2. Associations with variants in these genes have also been reported with a variety of psychometric measures tapping into the underlying processes that might be impaired in dyslexic people. In this study, we first conducted a literature review to select single nucleotide polymorphisms (SNPs) in dyslexia candidate genes that had been repeatedly implicated across studies...
January 11, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28057529/genetic-inhibition-of-anaplastic-lymphoma-kinase-rescues-cognitive-impairments-in-neurofibromatosis-1-mutant-mice
#15
Joseph B Weiss, Sydney J Weber, Eileen Ruth S Torres, Tessa Marzulla, Jacob Raber
Heterozygous Neurofibromatosis 1 (NF1) loss of function mutations occur in approximately 90% of patients with neurofibromatosis. A major, disabling phenotypic consequence of reduced NF1 function is cognitive impairment; a possibly related behavioral phenotype is impaired sleep. Recent results in Drosophila have demonstrated a genetic interaction between Anaplastic Lymphoma Kinase (Alk) and NF1 for both associative learning and sleep. Inhibition of Alk improves associative learning and sleep in heterozygous NF1 mutant flies...
March 15, 2017: Behavioural Brain Research
https://www.readbyqxmd.com/read/28045139/chrna7-deficient-mice-manifest-no-consistent-neuropsychiatric-and-behavioral-phenotypes
#16
Jiani Yin, Wu Chen, Hongxing Yang, Mingshan Xue, Christian P Schaaf
The alpha7 nicotinic acetylcholine receptor, encoded by the CHRNA7 gene, has been implicated in various psychiatric and behavioral disorders, including schizophrenia, bipolar disorder, epilepsy, autism, Alzheimer's disease, and Parkinson's disease, and is considered a potential target for therapeutic intervention. 15q13.3 microdeletion syndrome is a rare genetic disorder, caused by submicroscopic deletions on chromosome 15q. CHRNA7 is the only gene in this locus that has been deleted entirely in cases involving the smallest microdeletions...
January 3, 2017: Scientific Reports
https://www.readbyqxmd.com/read/27988864/the-potential-relevance-of-docosahexaenoic-acid-and-eicosapentaenoic-acid-to-the-etiopathogenesis-of-childhood-neuropsychiatric-disorders
#17
REVIEW
Alessandra Tesei, Alessandro Crippa, Silvia Busti Ceccarelli, Maddalena Mauri, Massimo Molteni, Carlo Agostoni, Maria Nobile
Over the last 15 years, considerable interest has been given to the potential role of omega-3 polyunsaturated fatty acids (PUFAs) for understanding pathogenesis and treatment of neurodevelopmental and psychiatric disorders. This review aims to systematically investigate the scientific evidence supporting the hypothesis on the omega-3 PUFAs deficit as a risk factor shared by different pediatric neuropsychiatric disorders. Medline PubMed database was searched for studies examining blood docosahexaenoic acid (DHA) or eicosapentaenoic acid (EPA) status in children with neuropsychiatric disorders...
December 17, 2016: European Child & Adolescent Psychiatry
https://www.readbyqxmd.com/read/27964710/first-case-report-of-inherited-rubinstein-taybi-syndrome-associated-with-a-novel-ep300-variant
#18
María López, Verónica Seidel, Paula Santibáñez, Cristina Cervera-Acedo, Pedro Castro-de Castro, Elena Domínguez-Garrido
BACKGROUND: Rubinstein-Taybi syndrome (RSTS; OMIM #180849, #613684) is a rare autosomal dominant genetic condition characterized by broad thumbs and halluces, facial dysmorphism, short stature and variable degree of intellectual disability. RSTS is associated with mutations in CREBBP and EP300 genes in 50-60% and 5-8% of cases, respectively. The majority of cases are de novo heterozygous mutations. CASE PRESENTATION: Here we describe a familial RSTS case, associated with a novel EP300 mutation...
December 13, 2016: BMC Medical Genetics
https://www.readbyqxmd.com/read/27957547/clinical-and-genetic-study-of-hereditary-spastic-paraplegia-in-canada
#19
Nicolas Chrestian, Nicolas Dupré, Ziv Gan-Or, Anna Szuto, Shiyi Chen, Anil Venkitachalam, Jean-Denis Brisson, Jodi Warman-Chardon, Sohnee Ahmed, Setareh Ashtiani, Heather MacDonald, Noreen Mohsin, Karim Mourabit-Amari, Pierre Provencher, Kym M Boycott, Dimitri J Stavropoulos, Patrick A Dion, Peter N Ray, Oksana Suchowersky, Guy A Rouleau, Grace Yoon
OBJECTIVE: To describe the clinical, genetic, and epidemiologic features of hereditary spastic paraplegia (HSP) in Canada and to determine which clinical, radiologic, and genetic factors determine functional outcomes for patients with HSP. METHODS: We conducted a multicenter observational study of patients who met clinical criteria for the diagnosis of HSP in the provinces of Alberta, Ontario, and Quebec from 2012 to 2015. Characteristics of the participants were analyzed using descriptive statistics...
February 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/27939641/loss-of-function-mutations-in-yy1ap1-lead-to-grange-syndrome-and-a-fibromuscular-dysplasia-like-vascular-disease
#20
Dong-Chuan Guo, Xue-Yan Duan, Ellen S Regalado, Lauren Mellor-Crummey, Callie S Kwartler, Dong Kim, Kenneth Lieberman, Bert B A de Vries, Rolph Pfundt, Albert Schinzel, Dieter Kotzot, Xuetong Shen, Min-Lee Yang, Michael J Bamshad, Deborah A Nickerson, Heather L Gornik, Santhi K Ganesh, Alan C Braverman, Dorothy K Grange, Dianna M Milewicz
Fibromuscular dysplasia (FMD) is a heterogeneous group of non-atherosclerotic and non-inflammatory arterial diseases that primarily involves the renal and cerebrovascular arteries. Grange syndrome is an autosomal-recessive condition characterized by severe and early-onset vascular disease similar to FMD and variable penetrance of brachydactyly, syndactyly, bone fragility, and learning disabilities. Exome-sequencing analysis of DNA from three affected siblings with Grange syndrome identified compound heterozygous nonsense variants in YY1AP1, and homozygous nonsense or frameshift YY1AP1 variants were subsequently identified in additional unrelated probands with Grange syndrome...
January 5, 2017: American Journal of Human Genetics
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