Cerebro-Oculo-Facio-Skeletal Syndrome with a Nucleotide Excision–Repair Defect and a Mutated XPD Gene, with Prenatal Diagnosis in a Triplet Pregnancy

Slides:

Advertisements

Similar presentations

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

Advertisements

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

Clinical Laboratory Analysis of Immunoglobulin Heavy Chain Variable Region Genes for Chronic Lymphocytic Leukemia Prognosis Philippe Szankasi, David.

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 Functional Single Nucleotide Polymorphisms in the Latent Transforming Growth Factor-β Binding Protein-1L Promoter Tomomi Higashi, Satoru Kyo, Masaki.

First Reported Patient with Human ERCC1 Deficiency Has Cerebro-Oculo-Facio- Skeletal Syndrome with a Mild Defect in Nucleotide Excision Repair and Severe.

DNA-based prenatal exclusion of harlequin ichthyosis

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

Variable neurologic phenotype in a GEFS+ family with a novel mutation in SCN1A Krista Mahoney, Susan J. Moore, David Buckley, Muhammed Alam, Patrick Parfrey,

The Molecular Basis of Malonyl-CoA Decarboxylase Deficiency

Cloning of Dimethylglycine Dehydrogenase and a New Human Inborn Error of Metabolism, Dimethylglycine Dehydrogenase Deficiency Barbara A. Binzak, Ron.

Functional Consequences of PRODH Missense Mutations

Thomas W. Prior, Scott J. Bridgeman

Mutational Spectrum of d-Bifunctional Protein Deficiency and Structure-Based Genotype-Phenotype Analysis Sacha Ferdinandusse, Mari S. Ylianttila, Jolein.

Michael Field, Patrick S

Exome Sequencing and Functional Analysis Identifies BANF1 Mutation as the Cause of a Hereditary Progeroid Syndrome Xose S. Puente, Victor Quesada, Fernando G.

Severe Palmo-Plantar Hyperkeratosis in Dowling–Meara Epidermolysis Bullosa Simplex Caused by a Mutation in the Keratin 14 Gene (KRT14) Carrie S. Shemanko

Aoi Nakano, Hajime Nakano, Sal LaForgia, Leena Pulkkinen, Jouni Uitto

A New Lamin A Mutation Associated with Acrogeria Syndrome

Clinical Laboratory Analysis of Immunoglobulin Heavy Chain Variable Region Genes for Chronic Lymphocytic Leukemia Prognosis Philippe Szankasi, David.

Effects of XPD Mutations on Ultraviolet-Induced Apoptosis in Relation to Skin Cancer- Proneness in Repair-Deficient Syndromes Sophie Queille, Christiane.

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

Peter Ianakiev, Michael W

A Synonymous Mutation in the CFTR Gene Causes Aberrant Splicing in an Italian Patient Affected by a Mild Form of Cystic Fibrosis Valeria Faa′, Alessandra.

Elizabeth R. Heller, Sikandar G

Splice Site and Deletion Mutations in Keratin (KRT1 and KRT10) Genes: Unusual Phenotypic Alterations in Scandinavian Patients with Epidermolytic Hyperkeratosis

Clinical, Cellular, and Molecular Features of an Israeli Xeroderma Pigmentosum Family with a Frameshift Mutation in the XPC Gene: Sun Protection Prolongs.

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

Volume 119, Issue 2, Pages (August 2000)

Volume 23, Issue 6, Pages (September 2006)

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

Manitoba Aboriginal Kindred with Original Cerebro-Oculo-Facio-Skeletal Syndrome Has a Mutation in the Cockayne Syndrome Group B (CSB) Gene Lisiane B.

High Incidence of Later-Onset Fabry Disease Revealed by Newborn Screening* Marco Spada, Severo Pagliardini, Makiko Yasuda, Turgut Tukel, Geetha Thiagarajan,

A Newly Identified Patient with Clinical Xeroderma Pigmentosum Phenotype has a Non- Sense Mutation in the DDB2 Gene and Incomplete Repair in (6-4) Photoproducts

Dominant Inheritance of Sialuria, an Inborn Error of Feedback Inhibition Jules G. Leroy, Raili Seppala, Marjan Huizing, George Dacremont, Helena De Simpel,

A Missense Mutation in the Zinc-Finger Domain of the Human Hairless Gene Underlies Congenital Atrichia in a Family of Irish Travellers Wasim Ahmad, Alan.

A Novel Point Mutation Affecting the Tyrosine Kinase Domain of the TRKA Gene in a Family with Congenital Insensitivity to Pain with Anhidrosis Shinichi.

Two New XPD Patients Compound Heterozygous for the Same Mutation Demonstrate Diverse Clinical Features Mitsuo Fujimoto, Suzanne N. Leech, Therina Theron,

Mutations of the Ephrin-B1 Gene Cause Craniofrontonasal Syndrome

Autosomal-Dominant Woolly Hair Resulting from Disruption of Keratin 74 (KRT74), a Potential Determinant of Human Hair Texture Yutaka Shimomura, Muhammad.

Exome Sequencing Identifies Autosomal-Dominant SRP72 Mutations Associated with Familial Aplasia and Myelodysplasia Michael Kirwan, Amanda J. Walne, Vincent.

Ricardo A. Leite, Maria C. Marchetto, Alysson R

Lethal Contractural Syndrome Type 3 (LCCS3) Is Caused by a Mutation in PIP5K1C, Which Encodes PIPKIγ of the Phophatidylinsitol Pathway Ginat Narkis,

Ryan McDaniell, Daniel M. Warthen, Pedro A

Deletion of PREPL, a Gene Encoding a Putative Serine Oligopeptidase, in Patients with Hypotonia-Cystinuria Syndrome Jaak Jaeken, Kevin Martens, Inge.

Volume 38, Issue 5, Pages (June 2010)

PEX3 Is the Causal Gene Responsible for Peroxisome Membrane Assembly–Defective Zellweger Syndrome of Complementation Group G Kamran Ghaedi, Masanori.

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

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

Assessing the Functional Characteristics of Synonymous and Nonsynonymous Mutation Candidates by Use of Large DNA Constructs A.M. Eeds, D. Mortlock, R.

A Unique Point Mutation in the PMP22 Gene Is Associated with Charcot-Marie-Tooth Disease and Deafness Margaret J. Kovach, Jing-Ping Lin, Simeon Boyadjiev,

Molecular Diagnosis of Mast Cell Disorders

Transcriptional Control of SLC26A4 Is Involved in Pendred Syndrome and Nonsyndromic Enlargement of Vestibular Aqueduct (DFNB4) Tao Yang, Hilmar Vidarsson,

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

Volume 57, Issue 6, Pages (June 2000)

Human RFT1 Deficiency Leads to a Disorder of N-Linked Glycosylation

Xiangfeng Cui, Helen Feiner, Honghua Li

A Mutation in the V1 Domain of K16 is Responsible for Unilateral Palmoplantar Verrucous Nevus Alessandro Terrinoni, Vincenzo De Laurenzi, Eleonora Candi,

Anthony M. Raizis, Martin M. Ferguson, David T. Nicholls, Derek W

Early Onset of Severe Familial Amyotrophic Lateral Sclerosis with a SOD-1 Mutation: Potential Impact of CNTF as a Candidate Modifier Gene Ralf Giess,

Characterization of a Recurrent Novel Large Duplication in the Cystic Fibrosis Transmembrane Conductance Regulator Gene Feras M. Hantash, Joy B. Redman,

Mutations in CHEK2 Associated with Prostate Cancer Risk

Maureen J. O'Sullivan, Peter A. Humphrey, Louis P. Dehner, John D

Germline Mutations in CDH23, Encoding Cadherin-Related 23, Are Associated with Both Familial and Sporadic Pituitary Adenomas Qilin Zhang, Cheng Peng,

Cloning of Dimethylglycine Dehydrogenase and a New Human Inborn Error of Metabolism, Dimethylglycine Dehydrogenase Deficiency Barbara A. Binzak, Ron.

Epigenetic Allele Silencing Unveils Recessive RYR1 Mutations in Core Myopathies Haiyan Zhou, Martin Brockington, Heinz Jungbluth, David Monk, Philip Stanier,

Exon Skipping in IVD RNA Processing in Isovaleric Acidemia Caused by Point Mutations in the Coding Region of the IVD Gene Jerry Vockley, Peter K. Rogan,

Mutations in the Fatty Acid 2-Hydroxylase Gene Are Associated with Leukodystrophy with Spastic Paraparesis and Dystonia Simon Edvardson, Hiroko Hama,

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

Mutational Spectrum of d-Bifunctional Protein Deficiency and Structure-Based Genotype-Phenotype Analysis Sacha Ferdinandusse, Mari S. Ylianttila, Jolein.

Presentation transcript:

Cerebro-Oculo-Facio-Skeletal Syndrome with a Nucleotide Excision–Repair Defect and a Mutated XPD Gene, with Prenatal Diagnosis in a Triplet Pregnancy John M. Graham, Kwame Anyane-Yeboa, Anja Raams, Esther Appeldoorn, Wim J. Kleijer, Victor H. Garritsen, David Busch, Terri G. Edersheim, Nicolaas G.J. Jaspers The American Journal of Human Genetics Volume 69, Issue 2, Pages 291-300 (August 2001) DOI: 10.1086/321295 Copyright © 2001 The American Society of Human Genetics Terms and Conditions

Figure 1 Clinical appearance of patient with COFS syndrome. Patient is shown at age 3 wk (left) and at age 9 mo (right). The American Journal of Human Genetics 2001 69, 291-300DOI: (10.1086/321295) Copyright © 2001 The American Society of Human Genetics Terms and Conditions

Figure 2 DNA-repair characteristics of patient's fibroblasts (black symbols) and of normal C5RO cells (white symbols). Standard-error bars are shown wherever they exceed symbol size. A, UV-survival curves, compared to typical XP-A and XP-C strains measured in a separate experiment. B, GG-NER activity in mononuclear cells of patient (black bars) mononuclear cells from fusion partner (representative of XP group B, D, or G) (white bars), and heterokaryons in fusion experiments (gray bars), measured as UDS and represented as a percentage of that in normal C5RO cells tested in the same experiment. C, Residual rates of overall DNA synthesis 16 h after exposure to various UV doses. Typical responses of XP-A and CS-B cells are from a separate experiment. The American Journal of Human Genetics 2001 69, 291-300DOI: (10.1086/321295) Copyright © 2001 The American Society of Human Genetics Terms and Conditions

Figure 3 Molecular genetic analysis of XPD gene. A, Restriction-enzyme fingerprinting of 3′ cDNA fragment 4 (shown in panel D), digested with RsaI-HhaI. Red arrows indicate new bands appearing in patient's DNA (lane P), compared to normal sequence (lane N). B, Relevant parts of XPD sequence readout. Both mutations found were heterozygous. C, Conservation of XPD amino acids around mutation D681N. Rodent = Mus musculus and Cricetulus griseus; fish = Xiphophorous maculatus. D, Bar representation of XPD protein with seven helicase domains, mutations found in the proband (black) and in two other patients in XP-D who have symptoms of CS (gray) (from Lehmann 2001). The American Journal of Human Genetics 2001 69, 291-300DOI: (10.1086/321295) Copyright © 2001 The American Society of Human Genetics Terms and Conditions