Maja Hempel, Kirsten Cremer, Charlotte W. Ockeloen, Klaske D

Slides:

Advertisements

Similar presentations

Mutations in MED12 Cause X-Linked Ohdo Syndrome Anneke T. Vulto-van Silfhout, Bert B.A. de Vries, Bregje W.M. van Bon, Alexander Hoischen, Martina Ruiterkamp-Versteeg,

Advertisements

ZNF674: A New Krüppel-Associated Box–Containing Zinc-Finger Gene Involved in Nonsyndromic X-Linked Mental Retardation Dorien Lugtenberg, Helger G. Yntema,

OFD1 Is Mutated in X-Linked Joubert Syndrome and Interacts with LCA5-Encoded Lebercilin Karlien L.M. Coene, Ronald Roepman, Dan Doherty, Bushra Afroze,

Novel PMS2 Pseudogenes Can Conceal Recessive Mutations Causing a Distinctive Childhood Cancer Syndrome Michel De Vos, Bruce E. Hayward, Susan Picton, Eamonn.

De Novo Mutations in FOXP1 in Cases with Intellectual Disability, Autism, and Language Impairment Fadi F. Hamdan, Hussein Daoud, Daniel Rochefort, Amélie.

Length Distributions of Identity by Descent Reveal Fine-Scale Demographic History Pier Francesco Palamara, Todd Lencz, Ariel Darvasi, Itsik Pe’er The American.

TFIIH Subunit Alterations Causing Xeroderma Pigmentosum and Trichothiodystrophy Specifically Disturb Several Steps during Transcription Amita Singh, Emanuel.

Previous Estimates of Mitochondrial DNA Mutation Level Variance Did Not Account for Sampling Error: Comparing the mtDNA Genetic Bottleneck in Mice and.

Connexin Mutations in Skin Disease and Hearing Loss David P. Kelsell, Wei-Li Di, Mark J. Houseman The American Journal of Human Genetics Volume 68, Issue.

Differential Relationship of DNA Replication Timing to Different Forms of Human Mutation and Variation Amnon Koren, Paz Polak, James Nemesh, Jacob J. Michaelson,

Functional Analysis of the Neurofibromatosis Type 2 Protein by Means of Disease- Causing Point Mutations Renee P. Stokowski, David R. Cox The American.

Gene Preference in Maple Syrup Urine Disease Mary M. Nellis, Dean J. Danner The American Journal of Human Genetics Volume 68, Issue 1, Pages (January.

Alternative Splicing QTLs in European and African Populations Halit Ongen, Emmanouil T. Dermitzakis The American Journal of Human Genetics Volume 97, Issue.

A Multilocus Model of the Genetic Architecture of Autoimmune Thyroid Disorder, with Clinical Implications Veronica J. Vieland, Yungui Huang, Christopher.

Genome Scan Meta-Analysis of Schizophrenia and Bipolar Disorder, Part I: Methods and Power Analysis Douglas F. Levinson, Matthew D. Levinson, Ricardo Segurado,

Fragile X and X-Linked Intellectual Disability: Four Decades of Discovery Herbert A. Lubs, Roger E. Stevenson, Charles E. Schwartz The American Journal.

De Novo Nonsense Mutations in KAT6A, a Lysine Acetyl-Transferase Gene, Cause a Syndrome Including Microcephaly and Global Developmental Delay Valerie A.

Peopling of Sahul: mtDNA Variation in Aboriginal Australian and Papua New Guinean Populations Alan J. Redd, Mark Stoneking The American Journal of Human.

The Primordial Growth Disorder 3-M Syndrome Connects Ubiquitination to the Cytoskeletal Adaptor OBSL1 Dan Hanson, Philip G. Murray, Amit Sud, Samia A.

Tjitske Kleefstra, Jamie M. Kramer, Kornelia Neveling, Marjolein H

Compound Heterozygosity of Low-Frequency Promoter Deletions and Rare Loss-of- Function Mutations in TXNL4A Causes Burn-McKeown Syndrome Dagmar Wieczorek,

The H Syndrome Is Caused by Mutations in the Nucleoside Transporter hENT3 Vered Molho-Pessach, Israela Lerer, Dvorah Abeliovich, Ziad Agha, Abdulasalam.

De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder Davor Lessel, Claudia Schob, Sébastien Küry, Margot.

Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss Akemi J. Tanaka, Megan T. Cho, Francisca Millan,

Ilse Feenstra, Lisenka E. L. M. Vissers, Ronald J. E

Grouping of Multiple-Lentigines/LEOPARD and Noonan Syndromes on the PTPN11 Gene Maria Cristina Digilio, Emanuela Conti, Anna Sarkozy, Rita Mingarelli,

NR2F1 Mutations Cause Optic Atrophy with Intellectual Disability

Fetal Alcohol Spectrum Disorders Ira J. Chasnoff, MD

Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated Ptosis Francesca Mattioli,

Margaret J. McMillin, Anita E. Beck, Jessica X. Chong, Kathryn M

2016 Curt Stern Award Address: From Rare to Common Diseases: Translating Genetic Discovery to Therapy1 Brendan Lee The American Journal of Human Genetics

De Novo Variants in GRIA4 Lead to Intellectual Disability with or without Seizures and Gait Abnormalities Sonja Martin, Adam Chamberlin, Deepali N. Shinde,

Holly A. F. Stessman, Marjolein H

De Novo Loss-of-Function Mutations in SETD5, Encoding a Methyltransferase in a 3p25 Microdeletion Syndrome Critical Region, Cause Intellectual Disability

Mutations in EZH2 Cause Weaver Syndrome

Exome Sequencing Identifies Truncating Mutations in Human SERPINF1 in Autosomal- Recessive Osteogenesis Imperfecta Jutta Becker, Oliver Semler, Christian.

Daniel Moreno-De-Luca, Jennifer G. Mulle, Erin B. Kaminsky, Stephan J

De Novo Mutations in CHD4, an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms Karin Weiss,

Variants in HNRNPH2 on the X Chromosome Are Associated with a Neurodevelopmental Disorder in Females Jennifer M. Bain, Megan T. Cho, Aida Telegrafi,

Mutations in KIF11 Cause Autosomal-Dominant Microcephaly Variably Associated with Congenital Lymphedema and Chorioretinopathy Pia Ostergaard, Michael A.

De Novo Mutations in MLL Cause Wiedemann-Steiner Syndrome

Segregation Analysis of Phenotypic Components of Learning Disabilities

Kristina Allen-Brady, Peggy A. Norton, James M

Mutations in PIGO, a Member of the GPI-Anchor-Synthesis Pathway, Cause Hyperphosphatasia with Mental Retardation Peter M. Krawitz, Yoshiko Murakami,

De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome Sandra Jansen, Sinje Geuer, Rolph Pfundt,

Christian Gilissen, Heleen H

Cantú Syndrome Is Caused by Mutations in ABCC9

The Phenotype of a Germline Mutation in PIGA: The Gene Somatically Mutated in Paroxysmal Nocturnal Hemoglobinuria Jennifer J. Johnston, Andrea L. Gropman,

Yu Jiang, Yujun Han, Slavé Petrovski, Kouros Owzar, David B

Dominant Mutations in KAT6A Cause Intellectual Disability with Recognizable Syndromic Features Emma Tham, Anna Lindstrand, Avni Santani, Helena Malmgren,

Erratum The American Journal of Human Genetics

Nadja Ehmke, Almuth Caliebe, Rainer Koenig, Sarina G

De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 Deletions Brieana Fregeau, Bum Jun.

De Novo Truncating Mutations in AHDC1 in Individuals with Syndromic Expressive Language Delay, Hypotonia, and Sleep Apnea Fan Xia, Matthew N. Bainbridge,

The Primordial Growth Disorder 3-M Syndrome Connects Ubiquitination to the Cytoskeletal Adaptor OBSL1 Dan Hanson, Philip G. Murray, Amit Sud, Samia A.

Biallelic SZT2 Mutations Cause Infantile Encephalopathy with Epilepsy and Dysmorphic Corpus Callosum Lina Basel-Vanagaite, Tova Hershkovitz, Eli Heyman,

Spatial Clustering of de Novo Missense Mutations Identifies Candidate Neurodevelopmental Disorder-Associated Genes Stefan H. Lelieveld, Laurens Wiel,

De Novo Variants in GRIA4 Lead to Intellectual Disability with or without Seizures and Gait Abnormalities Sonja Martin, Adam Chamberlin, Deepali N. Shinde,

Bi-allelic Truncating Mutations in TANGO2 Cause Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy Laura S. Kremer, Felix Distelmaier,

PGAP2 Mutations, Affecting the GPI-Anchor-Synthesis Pathway, Cause Hyperphosphatasia with Mental Retardation Syndrome Peter M. Krawitz, Yoshiko Murakami,

Mutations in PTPRQ Are a Cause of Autosomal-Recessive Nonsyndromic Hearing Impairment DFNB84 and Associated with Vestibular Dysfunction Margit Schraders,

Mutations in UNC80, Encoding Part of the UNC79-UNC80-NALCN Channel Complex, Cause Autosomal-Recessive Severe Infantile Encephalopathy Hanan E. Shamseldin,

Characterization of a 8q21

Hannah Kennedy, Tobias B. Haack, Verity Hartill, Lavinija Mataković, E

Alice S. Whittemore, Jerry Halpern

Hannah R. Elliott, David C. Samuels, James A. Eden, Caroline L

Zuoheng Wang, Mary Sara McPeek The American Journal of Human Genetics

This Month in AJKD American Journal of Kidney Diseases

Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated Ptosis Francesca Mattioli,

Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated with Craniofacial, Neurological, Cardiovascular, and Skeletal.

Presentation transcript:

De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment Maja Hempel, Kirsten Cremer, Charlotte W. Ockeloen, Klaske D. Lichtenbelt, Johanna C. Herkert, Jonas Denecke, Tobias B. Haack, Alexander M. Zink, Jessica Becker, Eva Wohlleber, Jessika Johannsen, Bader Alhaddad, Rolph Pfundt, Sigrid Fuchs, Dagmar Wieczorek, Tim M. Strom, Koen L.I. van Gassen, Tjitske Kleefstra, Christian Kubisch, Hartmut Engels, Davor Lessel The American Journal of Human Genetics Volume 97, Issue 3, Pages 493-500 (September 2015) DOI: 10.1016/j.ajhg.2015.08.003 Copyright © 2015 The American Society of Human Genetics Terms and Conditions

Figure 1 Facial Phenotype of Individuals with CHAMP1-Associated Disorder Facial images of individual A:II-1 at age 4 years (A), individual B:II-3 at the age of 12 months and 6 years (B), individual C:II-2 from the age of 6 till 18 years (C), individual D:II-2 at birth and at age 3 years (D), and individual E:II-2 at the age 4 and 9 years (E). Note the long face, orofacial hypotonia, epicanthic folds, upslanting palpebral fissures, short philtrum, thin and tented upper lip and everted lower lip, pointed chin, and deep-set ears. The American Journal of Human Genetics 2015 97, 493-500DOI: (10.1016/j.ajhg.2015.08.003) Copyright © 2015 The American Society of Human Genetics Terms and Conditions

Figure 2 Schematic Protein Structure of CHAMP1 The positions of the de novo mutations identified in this study are marked with vertical arrows and are shown in red; mutations identified in the Deciphering Developmental Disorders study are shown in black. Abbreviations are as follows: ZnF, zinc-finger domain; N, N terminus; C, C terminus. The American Journal of Human Genetics 2015 97, 493-500DOI: (10.1016/j.ajhg.2015.08.003) Copyright © 2015 The American Society of Human Genetics Terms and Conditions