Prenatal Microarray Disorders List V19.1
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Gene Symbol Gene Description ACVR1B Activin a Receptor, Type IB
Table S1. Kinase clones included in human kinase cDNA library for yeast two-hybrid screening Gene Symbol Gene Description ACVR1B activin A receptor, type IB ADCK2 aarF domain containing kinase 2 ADCK4 aarF domain containing kinase 4 AGK multiple substrate lipid kinase;MULK AK1 adenylate kinase 1 AK3 adenylate kinase 3 like 1 AK3L1 adenylate kinase 3 ALDH18A1 aldehyde dehydrogenase 18 family, member A1;ALDH18A1 ALK anaplastic lymphoma kinase (Ki-1) ALPK1 alpha-kinase 1 ALPK2 alpha-kinase 2 AMHR2 anti-Mullerian hormone receptor, type II ARAF v-raf murine sarcoma 3611 viral oncogene homolog 1 ARSG arylsulfatase G;ARSG AURKB aurora kinase B AURKC aurora kinase C BCKDK branched chain alpha-ketoacid dehydrogenase kinase BMPR1A bone morphogenetic protein receptor, type IA BMPR2 bone morphogenetic protein receptor, type II (serine/threonine kinase) BRAF v-raf murine sarcoma viral oncogene homolog B1 BRD3 bromodomain containing 3 BRD4 bromodomain containing 4 BTK Bruton agammaglobulinemia tyrosine kinase BUB1 BUB1 budding uninhibited by benzimidazoles 1 homolog (yeast) BUB1B BUB1 budding uninhibited by benzimidazoles 1 homolog beta (yeast) C9orf98 chromosome 9 open reading frame 98;C9orf98 CABC1 chaperone, ABC1 activity of bc1 complex like (S. pombe) CALM1 calmodulin 1 (phosphorylase kinase, delta) CALM2 calmodulin 2 (phosphorylase kinase, delta) CALM3 calmodulin 3 (phosphorylase kinase, delta) CAMK1 calcium/calmodulin-dependent protein kinase I CAMK2A calcium/calmodulin-dependent protein kinase (CaM kinase) II alpha CAMK2B calcium/calmodulin-dependent -
Reframing Psychiatry for Precision Medicine
Reframing Psychiatry for Precision Medicine Elizabeth B Torres 1,2,3* 1 Rutgers University Department of Psychology; [email protected] 2 Rutgers University Center for Cognitive Science (RUCCS) 3 Rutgers University Computer Science, Center for Biomedicine Imaging and Modelling (CBIM) * Correspondence: [email protected]; Tel.: (011) +858-445-8909 (E.B.T) Supplementary Material Sample Psychological criteria that sidelines sensory motor issues in autism: The ADOS-2 manual [1, 2], under the “Guidelines for Selecting a Module” section states (emphasis added): “Note that the ADOS-2 was developed for and standardized using populations of children and adults without significant sensory and motor impairments. Standardized use of any ADOS-2 module presumes that the individual can walk independently and is free of visual or hearing impairments that could potentially interfere with use of the materials or participation in specific tasks.” Sample Psychiatric criteria from the DSM-5 [3] that does not include sensory-motor issues: A. Persistent deficits in social communication and social interaction across multiple contexts, as manifested by the following, currently or by history (examples are illustrative, not exhaustive, see text): 1. Deficits in social-emotional reciprocity, ranging, for example, from abnormal social approach and failure of normal back-and-forth conversation; to reduced sharing of interests, emotions, or affect; to failure to initiate or respond to social interactions. 2. Deficits in nonverbal communicative behaviors used for social interaction, ranging, for example, from poorly integrated verbal and nonverbal communication; to abnormalities in eye contact and body language or deficits in understanding and use of gestures; to a total lack of facial expressions and nonverbal communication. -
Leading Article the Molecular and Genetic Base of Congenital Transport
Gut 2000;46:585–587 585 Gut: first published as 10.1136/gut.46.5.585 on 1 May 2000. Downloaded from Leading article The molecular and genetic base of congenital transport defects In the past 10 years, several monogenetic abnormalities Given the size of SGLT1 mRNA (2.3 kb), the gene is large, have been identified in families with congenital intestinal with 15 exons, and the introns range between 3 and 2.2 kb. transport defects. Wright and colleagues12 described the A single base change was identified in the entire coding first, which concerns congenital glucose and galactose region of one child, a finding that was confirmed in the malabsorption. Subsequently, altered genes were identified other aZicted sister. This was a homozygous guanine to in partial or total loss of nutrient absorption, including adenine base change at position 92. The patient’s parents cystinuria, lysinuric protein intolerance, Menkes’ disease were heterozygotes for this mutation. In addition, it was (copper malabsorption), bile salt malabsorption, certain found that the 92 mutation was associated with inhibition forms of lipid malabsorption, and congenital chloride diar- of sugar transport by the protein. Since the first familial rhoea. Altered genes may also result in decreased secretion study, genomic DNA has been screened in 31 symptomatic (for chloride in cystic fibrosis) or increased absorption (for GGM patients in 27 kindred from diVerent parts of the sodium in Liddle’s syndrome or copper in Wilson’s world. In all 33 cases the mutation produced truncated or disease)—for general review see Scriver and colleagues,3 mutant proteins. -
Next Generation Sequencing Panels for Disorders of Sex Development
Next Generation Sequencing Panels for Disorders of Sex Development Disorders of Sex Development – Overview Disorders of sex development (DSDs) occur when sex development does not follow the course of typical male or female patterning. Types of DSDs include congenital development of ambiguous genitalia, disjunction between the internal and external sex anatomy, incomplete development of the sex anatomy, and abnormalities of the development of gonads (such as ovotestes or streak ovaries) (1). Sex chromosome anomalies including Turner syndrome and Klinefelter syndrome as well as sex chromosome mosaicism are also considered to be DSDs. DSDs can be caused by a wide range of genetic abnormalities (2). Determining the etiology of a patient’s DSD can assist in deciding gender assignment, provide recurrence risk information for future pregnancies, and can identify potential health problems such as adrenal crisis or gonadoblastoma (1, 3). Sex chromosome aneuploidy and copy number variation are common genetic causes of DSDs. For this reason, chromosome analysis and/or microarray analysis typically should be the first genetic analysis in the case of a patient with ambiguous genitalia or other suspected disorder of sex development. Identifying whether a patient has a 46,XY or 46,XX karyotype can also be helpful in determining appropriate additional genetic testing. Abnormal/Ambiguous Genitalia Panel Our Abnormal/Ambiguous Genitalia Panel includes mutation analysis of 72 genes associated with both syndromic and non-syndromic DSDs. This comprehensive panel evaluates a broad range of genetic causes of ambiguous or abnormal genitalia, including conditions in which abnormal genitalia are the primary physical finding as well as syndromic conditions that involve abnormal genitalia in addition to other congenital anomalies. -
Phenotype Correlations in Individuals with Pathogenic RERE Variants
Genotype-phenotype correlations in individuals with pathogenic RERE variants Valerie K. Jordan,1 Brieana Fregeau,2 Xiaoyan Ge,3,4 Jessica Giordano,5 Ronald J. Wapner,5 Tugce B. Balci,6 Melissa T. Carter,6 John A. Bernat,7 Amanda N. Moccia,8 Anshika Srivastava,8 Donna M. Martin,8,9 Stephanie L. Bielas,8 John Pappas,10 Melissa D. Svoboda,11 Marlène Rio,12,13 Nathalie Boddaert,12,14 Vincent Cantagrel,12,15 Andrea M. Lewis,3,16 Fernando Scaglia,3,16 Undiagnosed Diseases Network, Jennefer N. Kohler,17 Jonathan A. Bernstein,17 Annika M. Dries,17 Jill A. Rosenfeld,3 Colette DeFilippo,18 Willa Thorson,19 Yaping Yang,3,4 Elliott H. Sherr,2 Weimin Bi,3,4 Daryl A. Scott1,3,16* 1) Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, TX, USA 2) Department of Neurology, University of California, San Francisco, San Francisco, CA, USA 3) Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA 4) Baylor Genetics, Houston, TX, USA 5) Institute of Genomic Medicine and Department of OB/GYN, Columbia University Medical Center, New York, NY, USA 6) Department of Genetics, Children’s Hospital of Eastern Ontario, Ottawa, ON, Canada 7) Stead Family Department of Pediatrics, The University of Iowa, Iowa City, IA, USA 8) Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI, USA This is the author manuscript accepted for publication and has undergone full peer review but has not been through the copyediting, typesetting, pagination and proofreading process, which may lead to differences between this version and the Version of Record. -
Understanding Fraser Syndrome
SPECIAL NEEDS // Features Synonyms of Fraser Syndrome • Cryptophthalmos- Syndactyly Syndrome • Cryptophthalmos Syndrome • Cyclopism • Fraser-Francois Syndrome • Meyer-Schwickerath’s Syndrome • Ulrich-Feichtiger Syndrome Understanding Fraser Syndrome A look at how Fraser Syndrome – a rare, non- development of the kidney), skeletal larynx. Lack of kidney function or blockage treatment are often required for those # Ophanet, a consortium of European sex linked genetic disorder – causes anomalies and mental delay. of the larynx is usually the cause of death for surviving Fraser Syndrome-affected children. partners, currently defines a condition rare a wide range of abnormalities, those who are stillborn or die within the first Thanks to advances in genetic counselling when it affects one person per 2,000. particularly vision loss. Associated Symptoms year of infancy. technologies, medical professionals Due to multiple malformations of different 25% of affected infants are stillborn, nowadays find it more effective in carrying * A pattern of inheritance in which both body organs, a child with Fraser Syndrome while 20% die before the age of one out the diagnosis, prenatal treatment and copies of an autosomal gene must be Compilation: Leonard Lau and Yvonne Tan; Photo: stock.xchange is likely to suffer from at least partial visual, year from renal or laryngeal defects. If management of Fraser Syndrome. abnormal for a genetic condition or disease hearing or speech impairment, among other these anomalies are not present, the life Ultrasonographic diagnosis of the to occur. An autosomal gene is a gene A very rare# genetic disorder occurring in Syndrome (the syndrome has a recurrence symptoms. expectancy is almost normal. -
The National Economic Burden of Rare Disease Study February 2021
Acknowledgements This study was sponsored by the EveryLife Foundation for Rare Diseases and made possible through the collaborative efforts of the national rare disease community and key stakeholders. The EveryLife Foundation thanks all those who shared their expertise and insights to provide invaluable input to the study including: the Lewin Group, the EveryLife Community Congress membership, the Technical Advisory Group for this study, leadership from the National Center for Advancing Translational Sciences (NCATS) at the National Institutes of Health (NIH), the Undiagnosed Diseases Network (UDN), the Little Hercules Foundation, the Rare Disease Legislative Advocates (RDLA) Advisory Committee, SmithSolve, and our study funders. Most especially, we thank the members of our rare disease patient and caregiver community who participated in this effort and have helped to transform their lived experience into quantifiable data. LEWIN GROUP PROJECT STAFF Grace Yang, MPA, MA, Vice President Inna Cintina, PhD, Senior Consultant Matt Zhou, BS, Research Consultant Daniel Emont, MPH, Research Consultant Janice Lin, BS, Consultant Samuel Kallman, BA, BS, Research Consultant EVERYLIFE FOUNDATION PROJECT STAFF Annie Kennedy, BS, Chief of Policy and Advocacy Julia Jenkins, BA, Executive Director Jamie Sullivan, MPH, Director of Policy TECHNICAL ADVISORY GROUP Annie Kennedy, BS, Chief of Policy & Advocacy, EveryLife Foundation for Rare Diseases Anne Pariser, MD, Director, Office of Rare Diseases Research, National Center for Advancing Translational Sciences (NCATS), National Institutes of Health Elisabeth M. Oehrlein, PhD, MS, Senior Director, Research and Programs, National Health Council Christina Hartman, Senior Director of Advocacy, The Assistance Fund Kathleen Stratton, National Academies of Science, Engineering and Medicine (NASEM) Steve Silvestri, Director, Government Affairs, Neurocrine Biosciences Inc. -
The Advantage of Genome-Wide Microarrays Over Targeted Approaches
PDF hosted at the Radboud Repository of the Radboud University Nijmegen The following full text is a publisher's version. For additional information about this publication click this link. http://hdl.handle.net/2066/70828 Please be advised that this information was generated on 2021-09-24 and may be subject to change. COPY NUMBER VARIATION AND MENTAL RETARDATION opmaak koolen.indd 1 10-09-2008 10:11:31 Copy number variation and mental retardation The studies presented in this thesis were performed at the Department of Human Genetics, Radboud University Nijmegen Medical Center, Nijmegen, the Netherlands. The research was supported by a grant from the Netherlands Organization for Health Research and Development (ZonMw). Publication of this thesis was financially supported by the Department of Human Genetics, Radboud University Nijmegen Medical Center, Nijmegen, the Netherlands. ISBN/EAN 978-90-6464-290-6 © 2008 D.A. Koolen All rights reserved. No part of this publication may be reproduced or transmitted in any form or by any means, electronic or mechanical, by print or otherwise, without permission in writing from the author. Cover photo: Printed by: Ponsen & Looijen B.V., Wageningen opmaak koolen.indd 2 10-09-2008 10:11:31 Copy number variation and mental retardation Een wetenschappelijke proeve op het gebied van de Medische Wetenschappen Proefschrift ter verkrijging van de graad doctor aan de Radboud Universiteit Nijmegen op gezag van de rector magnificus prof. mr. S.C.J.J. Kortmann, volgens besluit van het College van Decanen in het openbaar te verdedigen op donderdag 6 november 2008 om 15.30 uur precies door David Aljosja Koolen geboren op 22 juni 1976 te ‘s-Gravenhage opmaak koolen.indd 3 10-09-2008 10:11:32 Promotor: Prof. -
Bhagwan Moorjani, MD, FAAP, FAAN • Requires Knowledge of Normal CNS Developmental (I.E
1/16/2012 Neuroimaging in Childhood • Neuroimaging issues are distinct from Pediatric Neuroimaging in adults Neurometabolic-degenerative disorder • Sedation/anesthesia and Epilepsy • Motion artifacts Bhagwan Moorjani, MD, FAAP, FAAN • Requires knowledge of normal CNS developmental (i.e. myelin maturation) • Contrast media • Parental anxiety Diagnostic Approach Neuroimaging in Epilepsy • Age of onset • Peak incidence in childhood • Static vs Progressive • Occurs as a co-morbid condition in many – Look for treatable causes pediatric disorders (birth injury, – Do not overlook abuse, Manchausen if all is negative dysmorphism, chromosomal anomalies, • Phenotype presence (syndromic, HC, NCS, developmental delays/regression) systemic involvement) • Predominant symptom (epilepsy, DD, • Many neurologic disorders in children weakness/motor, psychomotor regression, have the same chief complaint cognitive/dementia) 1 1/16/2012 Congenital Malformation • Characterized by their anatomic features • Broad categories: based on embryogenesis – Stage 1: Dorsal Induction: Formation and closure of the neural tube. (Weeks 3-4) – Stage 2: Ventral Induction: Formation of the brain segments and face. (Weeks 5-10) – Stage 3: Migration and Histogenesis: (Months 2-5) – Stage 4: Myelination: (5-15 months; matures by 3 years) Dandy Walker Malformation Dandy walker • Criteria: – high position of tentorium – dysgenesis/agenesis of vermis – cystic dilatation of fourth ventricle • commonly associated features: – hypoplasia of cerebellum – scalloping of inner table of occipital bone • associated abnormalities: – hydrocephalus 75% – dysgenesis of corpus callosum 25% – heterotropia 10% 2 1/16/2012 Etiology of Epilepsy: Developmental and Genetic Classification of Gray Matter Heterotropia Cortical Dysplasia 1. Secondary to abnormal neuronal and • displaced masses of nerve cells • Subependymal glial proliferation/apoptosis (gray matter) heterotropia (most • most common: small nest common) 2. -
Journal of Medical Genetics April 1992 Vol 29 No4 Contents Original Articles
Journal of Medical Genetics April 1992 Vol 29 No4 Contents Original articles Beckwith-Wiedemann syndrome: a demonstration of the mechanisms responsible for the excess J Med Genet: first published as on 1 April 1992. Downloaded from of transmitting females C Moutou, C Junien, / Henry, C Bonai-Pellig 217 Evidence for paternal imprinting in familial Beckwith-Wiedemann syndrome D Viljoen, R Ramesar 221 Sex reversal in a child with a 46,X,Yp+ karyotype: support for the existence of a gene(s), located in distal Xp, involved in testis formation T Ogata, J R Hawkins, A Taylor, N Matsuo, J-1 Hata, P N Goodfellow 226 Highly polymorphic Xbol RFLPs of the human 21 -hydroxylase genes among Chinese L Chen, X Pan, Y Shen, Z Chen, Y Zhang, R Chen 231 Screening of microdeletions of chromosome 20 in patients with Alagille syndrome C Desmaze, J F Deleuze, A M Dutrillaux, G Thomas, M Hadchouel, A Aurias 233 Confirmation of genetic linkage between atopic IgE responses and chromosome 1 1 ql 3 R P Young, P A Sharp, J R Lynch, J A Faux, G M Lathrop, W 0 C M Cookson, J M Hopkini 236 Age at onset and life table risks in genetic counselling for Huntington's disease P S Harper, R G Newcombe 239 Genetic and clinical studies in autosomal dominant polycystic kidney disease type 1 (ADPKD1) E Coto, S Aguado, J Alvarez, M J Menendez-DIas, C Lopez-Larrea 243 Short communication Evidence for linkage disequilibrium between D16S94 and the adult onset polycystic kidney disease (PKD1) gene S E Pound, A D Carothers, P M Pignatelli, A M Macnicol, M L Watson, A F Wright 247 Technical note A strategy for the rapid isolation of new PCR based DNA polymorphisms P R Hoban, M F Santibanez-Koref, J Heighway 249 http://jmg.bmj.com/ Case reports Campomelic dysplasia associated with a de novo 2q;1 7q reciprocal translocation I D Young, J M Zuccollo, E L Maltby, N J Broderick 251 A complex chromosome rearrangement with 10 breakpoints: tentative assignment of the locus for Williams syndrome to 4q33-q35.1 R Tupler, P Maraschio, A Gerardo, R Mainieri G Lanzi L Tiepolo 253 on September 26, 2021 by guest. -
Cryptophthalmos Syndrome: a Case Report
Case Report Cryptophthalmos Syndrome: A Case Report Jawad Bin Yamin Butt, Tariq Mehmood Qureshi, Muhammad Tariq Khan, Anwar-ul-Haq Ahmad Pak J Ophthalmol 2014, Vol. 30 No.3 . .. .. See end of article for A 20 days female baby presented to us in OPD. She was the 4th child of normal authors affiliations parents with 3 normal siblings. She exhibited few features of cryptophthalmos which fit the criteria of Fraser syndrome. …..……………………….. Key words: Cryptophthalmos, Fraser syndrome, Eye lid defect. Correspondence to: Jawad Bin Yamin Butt Layton Benevolent Trust Hospital (LRBT), 436 A/I Township, Lahore …..……………………….. ryptophthalmos (CO) is defined as a set of rare CASE REPORT congenital eyelid defects in which the lid folds The patient is a 20 days old female. She is the 4th child C are unable to divide in the embryo and the of healthy parents. Her three older siblings are normal skin extends continuously from the forehead with no congenital malformation. The infant is full 1-3 onto the cheeks covering the eyes. CO maybe term and delivered by spontaneous vaginal delivery bilateral or unilateral and fluctuates in severity from which was eventless. The baby weighed 2900 grams at the presence of rudimentary, distorted eyelids to birth and exhibits normal feeding manner. complete absence of eyelids2. Autosomal recessive and autosomal dominant inheritance have been reported, Clinical evaluation exhibits complete absence of but most cases are autosomal recessive.4-8 right side eyelid formation with absent eyelashes. The skin is continuous from the forehead to the cheek, CO is of three clinical types: covering the entire globe. -
The Genetic Basis for Skeletal Diseases
insight review articles The genetic basis for skeletal diseases Elazar Zelzer & Bjorn R. Olsen Harvard Medical School, Department of Cell Biology, 240 Longwood Avenue, Boston, Massachusetts 02115, USA (e-mail: [email protected]) We walk, run, work and play, paying little attention to our bones, their joints and their muscle connections, because the system works. Evolution has refined robust genetic mechanisms for skeletal development and growth that are able to direct the formation of a complex, yet wonderfully adaptable organ system. How is it done? Recent studies of rare genetic diseases have identified many of the critical transcription factors and signalling pathways specifying the normal development of bones, confirming the wisdom of William Harvey when he said: “nature is nowhere accustomed more openly to display her secret mysteries than in cases where she shows traces of her workings apart from the beaten path”. enetic studies of diseases that affect skeletal differentiation to cartilage cells (chondrocytes) or bone cells development and growth are providing (osteoblasts) within the condensations. Subsequent growth invaluable insights into the roles not only of during the organogenesis phase generates cartilage models individual genes, but also of entire (anlagen) of future bones (as in limb bones) or membranous developmental pathways. Different mutations bones (as in the cranial vault) (Fig. 1). The cartilage anlagen Gin the same gene may result in a range of abnormalities, are replaced by bone and marrow in a process called endo- and disease ‘families’ are frequently caused by mutations in chondral ossification. Finally, a process of growth and components of the same pathway.