Wim Van Hul, Wendy Balemans, Els Van Hul, Frederik G

Slides:

Advertisements

Similar presentations

The Gene for Glycogen-Storage Disease Type 1b Maps to Chromosome 11q23

Advertisements

A Cholesterol-Lowering Gene Maps to Chromosome 13q

A New Autosomal Recessive Form of Stickler Syndrome Is Caused by a Mutation in the COL9A1 Gene Guy Van Camp, Rikkert L. Snoeckx, Nele Hilgert, Jenneke.

Identification of a Major Susceptibility Locus for Restless Legs Syndrome on Chromosome 12q Alex Desautels, Gustavo Turecki, Jacques Montplaisir, Adolfo.

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

Mapping of Autosomal Dominant Osteopetrosis Type II (Albers-Schönberg Disease) to Chromosome 16p13.3 Olivier Bénichou, Erna Cleiren, Jeppe Gram, Jens.

Genetic Linkage of Paget Disease of the Bone to Chromosome 18q

Use of Homozygosity Mapping to Identify a Region on Chromosome 1 Bearing a Defective Gene That Causes Autosomal Recessive Homozygous Hypercholesterolemia.

Inactivating Mutations in ESCO2 Cause SC Phocomelia and Roberts Syndrome: No Phenotype-Genotype Correlation Birgitt Schüle, Angelica Oviedo, Kathreen.

Localization of the Gene for Sclerosteosis to the van Buchem Disease–Gene Region on Chromosome 17q12–q21 Wendy Balemans, Jenneke Van Den Ende, Auristela.

Genomewide Linkage Scan Identifies a Novel Susceptibility Locus for Restless Legs Syndrome on Chromosome 9p Shenghan Chen, William G. Ondo, Shaoqi Rao,

Homozygous Deletion of the Very Low Density Lipoprotein Receptor Gene Causes Autosomal Recessive Cerebellar Hypoplasia with Cerebral Gyral Simplification

A Gene for Hypotrichosis Simplex of the Scalp Maps to Chromosome 6p21

The SPCH1 Region on Human 7q31: Genomic Characterization of the Critical Interval and Localization of Translocations Associated with Speech and Language.

A. Vanita, Jai Rup Singh, Virinder K

The Gene for Glycogen-Storage Disease Type 1b Maps to Chromosome 11q23

T. Ohta, K. Buiting, H. Kokkonen, S. McCandless, S. Heeger, H

Tamara Rogers, David Chandler, Dora Angelicheva, P. K

A Family with Isolated Hyperparathyroidism Segregating a Missense MEN1 Mutation and Showing Loss of the Wild-Type Alleles in the Parathyroid Tumors Bin.

Mapping of Primary Congenital Lymphedema to the 5q35.3 Region

The Gene for Severe Combined Immunodeficiency Disease in Athabascan-Speaking Native Americans Is Located on Chromosome 10p Lanying Li, Dennis Drayna,

A Gene Mutated in Nephronophthisis and Retinitis Pigmentosa Encodes a Novel Protein, Nephroretinin, Conserved in Evolution Edgar Otto, Julia Hoefele,

Identification of an Interstitial Deletion in an Adult Female with Schizophrenia, Mental Retardation, and Dysmorphic Features: Further Support for a Putative.

Ehlers-Danlos Syndrome with Severe Early-Onset Periodontal Disease (EDS-VIII) Is a Distinct, Heterogeneous Disorder with One Predisposition Gene at Chromosome.

Lan Xiong, Malgorzata Labuda, Dong-Sheng Li, Thomas J

Evidence for a Nonallelic Heterogeneity of Epidermodysplasia Verruciformis with Two Susceptibility Loci Mapped to Chromosome Regions 2p21–p24 and 17q25

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 a Genetic Locus for Ichthyosis Vulgaris on Chromosome 10q22.3– q24.2 Ping Liu, Qingyu Yang, Xu Wang, Aiping Feng, Tao Yang, Rong Yang,

Fine Mapping of the Split-Hand/Split-Foot Locus (SHFM3) at 10q24: Evidence for Anticipation and Segregation Distortion Rýdvan S. Özen, Bora E. Baysal,

Howard B. Yeon, Noralane M. Lindor, J.G. Seidman, Christine E. Seidman

John D. Rioux, Valerie A. Stone, Mark J

A Gene for Familial Juvenile Polyposis Maps to Chromosome 18q21.1

The Gene for Human Fibronectin Glomerulopathy Maps to 1q32, in the Region of the Regulation of Complement Activation Gene Cluster Martin Vollmer, Martin.

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

Familial Syndromic Esophageal Atresia Maps to 2p23-p24

A Locus for Hereditary Sensory Neuropathy with Cough and Gastroesophageal Reflux on Chromosome 3p22-p24 C. Kok, M.L. Kennerson, P.J. Spring, A.J. Ing,

Assignment of the Gene for a New Hereditary Nail Disorder, Isolated Congenital Nail Dysplasia, to Chromosome 17p13 Alice Krebsová, Henning Hamm, Susanne.

Disruption of Contactin 4 (CNTN4) Results in Developmental Delay and Other Features of 3p Deletion Syndrome Thomas Fernandez, Thomas Morgan, Nicole Davis,

Hal M. Hoffman, Fred A. Wright, David H. Broide, Alan A

A Locus for Brachydactyly Type A-1 Maps to Chromosome 2q35-q36

Koji Suzuki, Tania Bustos, Richard A. Spritz

Fibrodysplasia Ossificans Progressiva, a Heritable Disorder of Severe Heterotopic Ossification, Maps to Human Chromosome 4q27-31* George Feldman, Ming.

Linkage Analysis Identifies a Novel Locus for Restless Legs Syndrome on Chromosome 2q in a South Tyrolean Population Isolate Irene Pichler, Fabio Marroni,

Linkage Analysis of X-linked Cone-Rod Dystrophy: Localization to Xp11

Genetic Linkage of Autosomal-Dominant Alport Syndrome with Leukocyte Inclusions and Macrothrombocytopenia (Fechtner Syndrome) to Chromosome 22q11-13

Diaphyseal Medullary Stenosis with Malignant Fibrous Histiocytoma: a Hereditary Bone Dysplasia/Cancer Syndrome Maps to 9p21-22 John A. Martignetti, Robert.

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

A New Neurological Syndrome with Mental Retardation, Choreoathetosis, and Abnormal Behavior Maps to Chromosome Xp11 Edwin Reyniers, Patrick Van Bogaert,

John A. Martignetti, Karen E

A Severely Affected Male Born into a Rett Syndrome Kindred Supports X-Linked Inheritance and Allows Extension of the Exclusion Map Carolyn Schanen, Uta.

Long Homozygous Chromosomal Segments in Reference Families from the Centre d'Étude du Polymorphisme Humain Karl W. Broman, James L. Weber The American.

Dominique J. Verlaan, Adrian M. Siegel, Guy A. Rouleau

A Gene Locus Responsible for the Familial Hair Shaft Abnormality Pili Annulati Maps to Chromosome 12q24.32–24.33 Kathrin A. Giehl, Gertrud N. Eckstein,

A Gene for Fluctuating, Progressive Autosomal Dominant Nonsyndromic Hearing Loss, DFNA16, Maps to Chromosome 2q Kunihiro Fukushima, Norio Kasai,

Linkage Analysis in a Large Brazilian Family with van der Woude Syndrome Suggests the Existence of a Susceptibility Locus for Cleft Palate at 17p

Hereditary Isolated Renal Magnesium Loss Maps to Chromosome 11q23

Constitutional Mutations of the hSNF5/INI1 Gene Predispose to a Variety of Cancers Nicolas Sévenet, Eammon Sheridan, Daniel Amram, Pascale Schneider,

A New Locus for Autosomal Recessive Hypercholesterolemia Maps to Human Chromosome 15q25-q26 Milco Ciccarese, Adolfo Pacifico, Giancarlo Tonolo, Paolo.

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

Albena Jordanova, Florian P

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

Identification of a New Gene Locus for Adolescent Nephronophthisis, on Chromosome 3q22 in a Large Venezuelan Pedigree Heymut Omran, Carmen Fernandez,

Heritability of Cellular Radiosensitivity: A Marker of Low-Penetrance Predisposition Genes in Breast Cancer? S.A. Roberts, A.R. Spreadborough, B. Bulman,

A Gene for Autosomal Recessive Spondylocostal Dysostosis Maps to 19q13

A New Familial Amyotrophic Lateral Sclerosis Locus on Chromosome 16q12

Assignment of the Muscle-Eye-Brain Disease Gene to 1p32-p34 by Linkage Analysis and Homozygosity Mapping Bru Cormand, Kristiina Avela, Helena Pihko,

A Locus for Autosomal Dominant Hereditary Spastic Ataxia, SAX1,Maps to Chromosome 12p13 I.A. Meijer, C.K. Hand, K.K. Grewal, M.G. Stefanelli, E.J. Ives,

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

Brachydactyly Type B: Clinical Description, Genetic Mapping to Chromosome 9q, and Evidence for a Shared Ancestral Mutation Yaoqin Gong, David Chitayat,

Mapping of a New SGBS Locus to Chromosome Xp22 in a Family with a Severe Form of Simpson-Golabi-Behmel Syndrome L.M. Brzustowicz, S. Farrell, M.B. Khan,

Presentation transcript:

Van Buchem Disease (Hyperostosis Corticalis Generalisata) Maps to Chromosome 17q12-q21 Wim Van Hul, Wendy Balemans, Els Van Hul, Frederik G. Dikkers, Henk Obee, Robert J. Stokroos, Peter Hildering, Filip Vanhoenacker, Guy Van Camp, Patrick J. Willems The American Journal of Human Genetics Volume 62, Issue 2, Pages 391-399 (February 1998) DOI: 10.1086/301721 Copyright © 1998 The American Society of Human Genetics Terms and Conditions

Figure 1 Pedigree including 13 van Buchem patients, over 10 generations. Blackened symbols represent affected individuals. The identification number of each patient is shown below the symbol. Patient 12 represents case I and patient 13 represents case II from the study by van Buchem (1971). For the other six patients described previously (patients 3–8), the numbering remained identical. For the 11 patients included in this linkage study, the alleles for marker D17S1299 are shown below each symbol. In eight patients, marker D17S1299 is homozygous for allele 3. The heterozygosity in the remaining three patients (9, 10, and 11) could have been caused by one recombination event. The American Journal of Human Genetics 1998 62, 391-399DOI: (10.1086/301721) Copyright © 1998 The American Society of Human Genetics Terms and Conditions

Figure 2 Clinical pictures of seven patients showing characteristic features of van Buchem disease. Frontal (A) and lateral (B) views of patient 3. This patient, at age 65 years, was the oldest patient studied. C–G, Pictures of the five new van Buchem patients (patients 1, 2, and 9–11, respectively). All patients showed the characteristic features of protruding chin, high forehead, and facial nerve paralysis, as illustrated in panel C. The American Journal of Human Genetics 1998 62, 391-399DOI: (10.1086/301721) Copyright © 1998 The American Society of Human Genetics Terms and Conditions

Figure 3 X-rays showing generalized sclerosis in van Buchem patients. A, Lateral view of the elbow, showing diffuse diaphyseal sclerosis. The cortex is thickened, and there is narrowing of the medullary canal. B and C, Anteroposterior and lateral views of the skull, showing extensive sclerosis of the calvarium and the skull base, enlargement of the mandible, and obliteration of the paranasal and mastoid air spaces (Van der Wouden 1971). The American Journal of Human Genetics 1998 62, 391-399DOI: (10.1086/301721) Copyright © 1998 The American Society of Human Genetics Terms and Conditions

Figure 4 Skull and mandible of one of the patients described originally by van Buchem et al. (1955). This skull of a 52-year-old female case weighs 2,357 g. Frontal (A) and lateral (B) views show the markedly enlarged and thickened hyperostotic mandible with many bone excrescences. The entire skull, including the zygomatic ouch nose, is severely thickened and has a rough surface covered with flat excrescences or exostoses. Sutures have disappeared, owing to new bone formation. The orbital, foramen opticum, and nasal openings are narrowed. The skull shows impressive thickening (C), and the mandible has a blown-up appearance (D and E), owing to massive enlargement of the entire mandible, which is covered with bony excrescences. The American Journal of Human Genetics 1998 62, 391-399DOI: (10.1086/301721) Copyright © 1998 The American Society of Human Genetics Terms and Conditions

Figure 5 Delineation of the genetic candidate region for the van Buchem gene, on chromosome 17, by analysis of key recombinants. The blackened bars represent the regions containing the disease gene, whereas the unblackened bars represent excluded regions. The vertical lines represent regions that were uninformative. A recombination event in patients 9–11 excludes the region proximal to D17S1787, whereas a recombination with D17S934 in patient 1 excludes the region distal to D17S934. The remaining candidate region, between D17S1787 and D17S934, spans 0.7 cM on the genetic map. The American Journal of Human Genetics 1998 62, 391-399DOI: (10.1086/301721) Copyright © 1998 The American Society of Human Genetics Terms and Conditions