Arts Syndrome Is Caused by Loss-of-Function Mutations in PRPS1

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,

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.

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

De Novo BRCA1 Mutation in a Patient with Breast Cancer and an Inherited BRCA2 Mutation Andrea Tesoriero, Chris Andersen, Melissa Southey, Gino Somers,

Rapid Molecular Analysis of the STAT3 Gene in Job Syndrome of Hyper-IgE and Recurrent Infectious Diseases Attila Kumánovics, Carl T. Wittwer, Robert.

Protein-Truncation Mutations in the RP2 Gene in a North American Cohort of Families with X-Linked Retinitis Pigmentosa Alan J. Mears, Linn Gieser, Denise.

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

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

Jacek Majewski The American Journal of Human Genetics

A Mutation in the Vesicle-Trafficking Protein VAPB Causes Late-Onset Spinal Muscular Atrophy and Amyotrophic Lateral Sclerosis Agnes L. Nishimura, Miguel.

Wanlong Ma, Hagop Kantarjian, Xi Zhang, Chen-Hsiung Yeh, Zhong J

Deficiency of the ADP-Forming Succinyl-CoA Synthase Activity Is Associated with Encephalomyopathy and Mitochondrial DNA Depletion Orly Elpeleg, Chaya.

Familial Deafness, Congenital Heart Defects, and Posterior Embryotoxon Caused by Cysteine Substitution in the First Epidermal-Growth-Factor–Like Domain.

PTPN11 Mutations in Noonan Syndrome: Molecular Spectrum, Genotype-Phenotype Correlation, and Phenotypic Heterogeneity Marco Tartaglia, Kamini Kalidas,

Volume 54, Issue 3, Pages (September 1998)

The prevalence of digenic mutations in patients with normosmic hypogonadotropic hypogonadism and Kallmann syndrome Samuel D. Quaynor, M.S., Hyung-Goo.

Autosomal Dominant Familial Calcium Pyrophosphate Dihydrate Deposition Disease Is Caused by Mutation in the Transmembrane Protein ANKH Charlene J. Williams,

Peter Ianakiev, Michael W

Susan M. Farrington, Juili Lin-Goerke, Jessica Ling, Yute Wang, John D

Structure of the GM2A Gene: Identification of an Exon 2 Nonsense Mutation and a Naturally Occurring Transcript with an In-Frame Deletion of Exon 2 Biao.

Terminal Osseous Dysplasia Is Caused by a Single Recurrent Mutation in the FLNA Gene Yu Sun, Rowida Almomani, Emmelien Aten, Jacopo Celli, Jaap van der.

A Second Gene for Autosomal Dominant Möbius Syndrome Is Localized to Chromosome 10q, in a Dutch Family H.T.F.M. Verzijl, B. van den Helm, B. Veldman,

A Mutation in the Fibroblast Growth Factor 14 Gene Is Associated with Autosomal Dominant Cerebral Ataxia John C. van Swieten, Esther Brusse, Bianca M.

Duplication of the MECP2 Region Is a Frequent Cause of Severe Mental Retardation and Progressive Neurological Symptoms in Males Hilde Van Esch, Marijke.

A Kerato-Epithelin (βig-h3) Mutation in Lattice Corneal Dystrophy Type IIIA Shuji Yamamoto, Masaki Okada, Motokazu Tsujikawa, Yoshikazu Shimomura, Kohji.

Familial Juvenile Hyperuricemic Nephropathy: Localization of the Gene on Chromosome 16p11.2—and Evidence for Genetic Heterogeneity Blanka Stibůrková,

Mental Retardation and Abnormal Skeletal Development (Dyggve-Melchior-Clausen Dysplasia) Due to Mutations in a Novel, Evolutionarily Conserved Gene Daniel.

Loss-of-Function Mutations in Euchromatin Histone Methyl Transferase 1 (EHMT1) Cause the 9q34 Subtelomeric Deletion Syndrome Tjitske Kleefstra, Han G.

Camiel J. F. Boon, B. Jeroen Klevering, Carel B. Hoyng, Marijke N

Mutations in the Human TBX4 Gene Cause Small Patella Syndrome

Guofang Hu, Meltem Önder, Melissa Gill, Burhan Aksakal, Murat Öztas, M

A Mutation Hot Spot for Nonspecific X-Linked Mental Retardation in the MECP2 Gene Causes the PPM-X Syndrome Sabine M. Klauck, Susan Lindsay, Kim S. Beyer,

Naturally Occurring Mutations of the Luteinizing-Hormone Receptor: Lessons Learned about Reproductive Physiology and G Protein–Coupled Receptors Ana.

Airong Li, Sonia Davila, Laszlo Furu, Qi Qian, Xin Tian, Patrick S

Familial Syndromic Esophageal Atresia Maps to 2p23-p24

Mutations in MED12 Cause X-Linked Ohdo Syndrome

A Recurrent Mutation in the ARS (Component B) Gene Encoding SLURP-1 in Turkish Families with Mal de Meleda: Evidence of a Founder Effect Guofang Hu,

Genetic studies into inherited and sporadic hemolytic uremic syndrome

Mutations of the Ephrin-B1 Gene Cause Craniofrontonasal Syndrome

Disrupted in Schizophrenia 1 (DISC1): Association with Schizophrenia, Schizoaffective Disorder, and Bipolar Disorder Colin A. Hodgkinson, David Goldman,

Sadaf Naz, Chantal M. Giguere, David C. Kohrman, Kristina L

Erratum The American Journal of Human Genetics

PRPS1 Mutations: Four Distinct Syndromes and Potential Treatment

A Mutation in the Variable Repeat Region of the Aggrecan Gene (AGC1) Causes a Form of Spondyloepiphyseal Dysplasia Associated with Severe, Premature.

Homozygosity and Linkage-Disequilibrium Mapping of the Syndrome of Congenital Hypoparathyroidism, Growth and Mental Retardation, and Dysmorphism to a.

John A. Martignetti, Karen E

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

DVL3 Alleles Resulting in a −1 Frameshift of the Last Exon Mediate Autosomal- Dominant Robinow Syndrome Janson J. White, Juliana F. Mazzeu, Alexander.

Recurrence of Marfan Syndrome as a Result of Parental Germ-Line Mosaicism for an FBN1 Mutation Terhi Rantamäki, Ilkka Kaitila, Ann-Christine Syvänen,

Opitz G/BBB Syndrome in Xp22: Mutations in the MID1 Gene Cluster in the Carboxy- Terminal Domain Karin Gaudenz, Erich Roessler, Nandita Quaderi, Brunella.

Maternal Transmission of the 3 bp Deletion within Exon 7 of the STS Gene in Steroid Sulfatase Deficiency Margarita Valdes-Flores Journal of Investigative.

Relationship between CFTR and CTRC Variants and the Clinical Phenotype in Late- Onset Cystic Fibrosis Disease with Chronic Pancreatitis Anna C. Tomaiuolo,

Characterization and Mutation Analysis of Human LEFTY A and LEFTY B, Homologues of Murine Genes Implicated in Left-Right Axis Development K. Kosaki,

Homozygous Variegate Porphyria: Identification of Mutations on Both Alleles of the Protoporphyrinogen Oxidase Gene in a Severely Affected Proband Jorge.

Mental Retardation and Abnormal Skeletal Development (Dyggve-Melchior-Clausen Dysplasia) Due to Mutations in a Novel, Evolutionarily Conserved Gene Daniel.

Identification of Recurrent Mutations in the ARS (Component B) Gene Encoding SLURP-1 in Two Families with Mal de Meleda Kimberley Morine Ward, Jülide.

Mutation Analysis of UBE3A in Angelman Syndrome Patients

Arun Kumar, Satish C. Girimaji, Mahesh R. Duvvari, Susan H. Blanton

Identification, by Homozygosity Mapping, of a Novel Locus for Autosomal Recessive Congenital Ichthyosis on Chromosome 17p, and Evidence for Further Genetic.

Emma L. Williams, PhD, Markus J. Kemper, MD, Gill Rumsby, PhD, FRCPath

Mutations in CHEK2 Associated with Prostate Cancer Risk

A Gene for an Autosomal Dominant Scleroatrophic Syndrome Predisposing to Skin Cancer (Huriez Syndrome) Maps to Chromosome 4q23 Young-Ae Lee, Howard P.

A Missense Mutation in a Highly Conserved Region of CASQ2 Is Associated with Autosomal Recessive Catecholamine-Induced Polymorphic Ventricular Tachycardia.

On the Etruscan Mitochondrial DNA Contribution to Modern Humans

Darryl Y. Nishimura, Ruth E. Swiderski, Charles C. Searby, Erik M

Mutations in Two Nonhomologous Genes in a Head-to-Head Configuration Cause Ellis- van Creveld Syndrome Victor L. Ruiz-Perez, W.J. Stuart Tompson, J. Helen.

Duplication of the MECP2 Region Is a Frequent Cause of Severe Mental Retardation and Progressive Neurological Symptoms in Males Hilde Van Esch, Marijke.

Identification of Novel pro-α2(IX) Collagen Gene Mutations in Two Families with Distinctive Oligo-Epiphyseal Forms of Multiple Epiphyseal Dysplasia Paul.

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

Presentation transcript:

Arts Syndrome Is Caused by Loss-of-Function Mutations in PRPS1 Arjan P.M. de Brouwer, Kelly L. Williams, John A. Duley, André B.P. van Kuilenburg, Sander B. Nabuurs, Michael Egmont-Petersen, Dorien Lugtenberg, Lida Zoetekouw, Martijn J.G. Banning, Melissa Roeffen, Ben C.J. Hamel, Linda Weaving, Robert A. Ouvrier, Jennifer A. Donald, Ron A. Wevers, John Christodoulou, Hans van Bokhoven The American Journal of Human Genetics Volume 81, Issue 3, Pages 507-518 (September 2007) DOI: 10.1086/520706 Copyright © 2007 The American Society of Human Genetics Terms and Conditions

Figure 1 Pedigree of family F (A) and the overlapping linkage intervals between family F (B) and family N032 (C). Indicated are the positions of the genes analyzed in patients as described in this article (bold font) and as previously described by de Brouwer et al.29 The American Journal of Human Genetics 2007 81, 507-518DOI: (10.1086/520706) Copyright © 2007 The American Society of Human Genetics Terms and Conditions

Figure 2 Chromatograms showing the nucleotide changes in PRPS1. A, c.398A→C transversion in exon 3 in individual III-2 of family F. B, Segregation of the mutant allele within family F (see also fig. 1A), as shown by ApoI restriction analysis. C, c.455T→C transition in exon 4 in individual IV-2 of family N032. D, Segregation of the mutant allele within family N032 (family members are numbered as in the work of Arts et al.14), as shown by BsmFI restriction analysis. The American Journal of Human Genetics 2007 81, 507-518DOI: (10.1086/520706) Copyright © 2007 The American Society of Human Genetics Terms and Conditions

Figure 3 Three-dimensional model of PRS-I as a hexamer (A and B) and close-ups of the two regions of PRS-I that contain the mutations p.Q133P (C and E) and p.L152P (D and F). The red spheres indicate the positions of the mutated amino acid residues in the PRS-I hexamer. The yellow dotted lines represent the hydrogen bonds. The American Journal of Human Genetics 2007 81, 507-518DOI: (10.1086/520706) Copyright © 2007 The American Society of Human Genetics Terms and Conditions