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

Slides:

Advertisements

Similar presentations

Copyright © 2000 American Medical Association. All rights reserved.

Advertisements

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

Identification of a Novel Locus Associated with Congenital Recessive Ichthyosis on 12p11.2–q13 Mordechai Mizrachi-Koren, Dan Geiger, Margarita Indelman,

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

M. A. Escamilla, M. C. DeMille, E. Benavides, E. Roche, L. Almasy, S

Homozygosity Mapping in Families with Joubert Syndrome Identifies a Locus on Chromosome 9q34.3 and Evidence for Genetic Heterogeneity Kathrin Saar, Lihadh.

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

Genetic Linkage of the Muckle-Wells Syndrome to Chromosome 1q44

Localization of a Gene (MCUL1) for Multiple Cutaneous Leiomyomata and Uterine Fibroids to Chromosome 1q42.3-q43 N.A. Alam, S. Bevan, M. Churchman, E.

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

Tracy Dixon-Salazar, Jennifer L. Silhavy, Sarah E. Marsh, Carrie M

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

C. M. van Duijn, M. C. J. Dekker, V. Bonifati, R. J. Galjaard, J. J

Cohen Syndrome Is Caused by Mutations in a Novel Gene, COH1, Encoding a Transmembrane Protein with a Presumed Role in Vesicle-Mediated Sorting and Intracellular.

L. M. Downey, T. J. Keen, E. Roberts, D. C. Mansfield, M. Bamashmus, C

A. Vanita, Jai Rup Singh, Virinder K

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

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

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,

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

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

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

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.

Refinement of the Locus for Autosomal Recessive Retinitis Pigmentosa (RP25) Linked to Chromosome 6q in a Family of Pakistani Origin Shagufta Khaliq,

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,

Localization of a Gene for Benign Adult Familial Myoclonic Epilepsy to Chromosome 8q23.3-q24.1 Masaaki Mikami, Takeshi Yasuda, Akira Terao, Masayuki.

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

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

Mapping of Charcot-Marie-Tooth Disease Type 1C to Chromosome 16p Identifies a Novel Locus for Demyelinating Neuropathies Valerie A. Street, Jeff D. Goldy,

Localization of a Gene for Duane Retraction Syndrome to Chromosome 2q31 Binoy Appukuttan, Elizabeth Gillanders, Suh-Hang Juo, Diana Freas-Lutz, Sandra.

Koji Suzuki, Tania Bustos, Richard A. Spritz

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

Two New Loci for Autosomal Recessive Ichthyosis on Chromosomes 3p21 and 19p12- q12 and Evidence for Further Genetic Heterogeneity Judith Fischer, Alexandra.

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

John A. Martignetti, Karen E

Retinitis Pigmentosa and Progressive Sensorineural Hearing Loss Caused by a C12258A Mutation in the Mitochondrial MTTS2 Gene Fiona C. Mansergh, Sophia.

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

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,

Mapping of Gene Loci for Nephronophthisis Type 4 and Senior-Løken Syndrome, to Chromosome 1p36 Maria J. Schuermann, Edgar Otto, Achim Becker, Katrin.

Genomewide Search and Genetic Localization of a Second Gene Associated with Autosomal Dominant Branchio-Oto-Renal Syndrome: Clinical and Genetic Implications

Hereditary Isolated Renal Magnesium Loss Maps to Chromosome 11q23

Tracy Dixon-Salazar, Jennifer L. Silhavy, Sarah E. Marsh, Carrie M

Familial Nontoxic Multinodular Thyroid Goiter Locus Maps to Chromosome 14q but Does Not Account for Familial Nonmedullary Thyroid Cancer Graham R. Bignell,

A Deletion Mutation in COL17A1 in Five Austrian Families with Generalized Atrophic Benign Epidermolysis Bullosa Represents Propagation of an Ancestral.

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.

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

Birt-Hogg-Dubé Syndrome, a Genodermatosis Associated with Spontaneous Pneumothorax and Kidney Neoplasia, Maps to Chromosome 17p11.2 Laura S. Schmidt,

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

A Gene for Autosomal Recessive Spondylocostal Dysostosis Maps to 19q13

Telomeric refinement of the MCKD1 locuson chromosome 1q21*

A New Familial Amyotrophic Lateral Sclerosis Locus on Chromosome 16q12

Cohen Syndrome Is Caused by Mutations in a Novel Gene, COH1, Encoding a Transmembrane Protein with a Presumed Role in Vesicle-Mediated Sorting and Intracellular.

Homozygosity Mapping in Families with Joubert Syndrome Identifies a Locus on Chromosome 9q34.3 and Evidence for Genetic Heterogeneity Kathrin Saar, Lihadh.

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,

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,

B. Yuan, R. Neuman, S. H. Duan, J. L. Weber, P. Y. Kwok, N. L

Autosomal Recessive Cerebellar Ataxia with Oculomotor Apraxia (Ataxia- Telangiectasia–Like Syndrome) Is Linked to Chromosome 9q34 Andrea H. Németh, Elena.

Presentation transcript:

Assignment of the Muscle-Eye-Brain Disease Gene to 1p32-p34 by Linkage Analysis and Homozygosity Mapping Bru Cormand, Kristiina Avela, Helena Pihko, Pirkko Santavuori, Beril Talim, Haluk Topaloglu, Albert de la Chapelle, Anna-Elina Lehesjoki The American Journal of Human Genetics Volume 64, Issue 1, Pages 126-135 (January 1999) DOI: 10.1086/302206 Copyright © 1999 The American Society of Human Genetics Terms and Conditions

Figure 1 A (opposite), Pedigrees of the Finnish MEB families F1–F6, showing haplotypes for 12 polymorphic markers on 1p. Affected individuals are denoted by blackened symbols, deceased family members are indicated by diagonal slashes, and consanguineous matings are marked by double lines. The haplotypes segregating with the disease phenotype are shown by black bars situated between the marker alleles. Families F1, F2, F3, and F5 were used in the first stage of the genomewide screening. Individuals II-3 and II-4 from family F4 did not fulfill the diagnostic criteria for MEB and were thus excluded from the initial linkage studies. The haplotype analysis on 1p excluded linkage to the MEB locus in these two individuals (see the Results section). B (above), Pedigrees of the consanguineous MEB families F7 (Finnish) and T1 (Turkish). Affected individuals are denoted by blackened symbols. Haplotypes for 20 markers surrounding the MEB gene on 1p are shown. The regions of homozygosity are indicated by black bars. tel = telomere; cen = centromere. The American Journal of Human Genetics 1999 64, 126-135DOI: (10.1086/302206) Copyright © 1999 The American Society of Human Genetics Terms and Conditions

Figure 1 A (opposite), Pedigrees of the Finnish MEB families F1–F6, showing haplotypes for 12 polymorphic markers on 1p. Affected individuals are denoted by blackened symbols, deceased family members are indicated by diagonal slashes, and consanguineous matings are marked by double lines. The haplotypes segregating with the disease phenotype are shown by black bars situated between the marker alleles. Families F1, F2, F3, and F5 were used in the first stage of the genomewide screening. Individuals II-3 and II-4 from family F4 did not fulfill the diagnostic criteria for MEB and were thus excluded from the initial linkage studies. The haplotype analysis on 1p excluded linkage to the MEB locus in these two individuals (see the Results section). B (above), Pedigrees of the consanguineous MEB families F7 (Finnish) and T1 (Turkish). Affected individuals are denoted by blackened symbols. Haplotypes for 20 markers surrounding the MEB gene on 1p are shown. The regions of homozygosity are indicated by black bars. tel = telomere; cen = centromere. The American Journal of Human Genetics 1999 64, 126-135DOI: (10.1086/302206) Copyright © 1999 The American Society of Human Genetics Terms and Conditions

Figure 2 MRI features of the brain of an MEB patient. Sagittal view showing an enlarged lateral ventricle, thin corpus callosum, absent pons, abnormal tectum, and cerebellar atrophy with absent vermis. The patient also has a pachygyria-type cortical migration defect. The American Journal of Human Genetics 1999 64, 126-135DOI: (10.1086/302206) Copyright © 1999 The American Society of Human Genetics Terms and Conditions

Figure 3 Ideogram of chromosome 1, showing the location and the relative order of and distances (in centimorgans) between the markers analyzed in this study. The MEB locus interval as defined by recombination events in affected individuals is indicated by a white bar. Blackened bars indicate regions of homozygosity in the affected sibs in the consanguineous families F7 and T1. Taken together, the data suggest that the MEB gene lies in a 9-cM interval between markers D1S211 and D1S200. The American Journal of Human Genetics 1999 64, 126-135DOI: (10.1086/302206) Copyright © 1999 The American Society of Human Genetics Terms and Conditions