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

Slides:

Advertisements

Similar presentations

Copyright © 2000 American Medical Association. All rights reserved.

Advertisements

Refinement of the Chromosome 5p Locus for Familial Calcium Pyrophosphate Dihydrate Deposition Disease L.J. Andrew, V. Brancolini, L. Serrano de la Pena,

Copyright © 2001 American Medical Association. All rights reserved.

Chapter 94: Fibrodysplasia (Myositis) Ossificans Progressiva

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

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.

Soraya Beiraghi, Swapan K. Nath, Matthew Gaines, Desh D

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

An Autosomal Dominant Thrombocytopenia Gene Maps to Chromosomal Region 10p Anna Savoia, Maria Del Vecchio, Antonio Totaro, Silverio Perrotta, Giovanni.

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.

Anxiety with Panic Disorder Linked to Chromosome 9q in Iceland

A. Vanita, Jai Rup Singh, Virinder 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,

Attention-Deficit/Hyperactivity Disorder in a Population Isolate: Linkage to Loci at 4q13.2, 5q33.3, 11q22, and 17p11 Mauricio Arcos-Burgos, F. Xavier.

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

Limb Mammary Syndrome: A New Genetic Disorder with Mammary Hypoplasia, Ectrodactyly, and Other Hand/Foot Anomalies Maps to Human Chromosome 3q27 Hans.

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,

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

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

Tristan F. W. McMullan, Andrew R. Collins, Anthony G. Tyers, David O

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

Familial Syndromic Esophageal Atresia Maps to 2p23-p24

Genetic and Mutational Analyses of a Large Multiethnic Bardet-Biedl Cohort Reveal a Minor Involvement of BBS6 and Delineate the Critical Intervals of.

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

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,

E. Warwick Daw, Simon C. Heath, Ellen M. Wijsman

Renpenning Syndrome Maps to Xp11

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

Genetic Linkage of Hereditary Gingival Fibromatosis to Chromosome 2p21

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

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

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.

Genomewide Scan in Families with Schizophrenia from the Founder Population of Afrikaners Reveals Evidence for Linkage and Uniparental Disomy on Chromosome.

Evidence That the Penetrance of Mutations at the RP11 Locus Causing Dominant Retinitis Pigmentosa Is Influenced by a Gene Linked to the Homologous RP11.

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,

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

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

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

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.

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,

Markers for Mapping by Admixture Linkage Disequilibrium in African American and Hispanic Populations Michael W. Smith, James A. Lautenberger, Hyoung.

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

A New Familial Amyotrophic Lateral Sclerosis Locus on Chromosome 16q12

Frances R. Goodman, Frank Majewski, Amanda L. Collins, Peter J

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

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,

Linkage of Familial Hemophagocytic Lymphohistiocytosis to 10q21-22 and Evidence for Heterogeneity Rémi Dufourcq-Lagelouse, Nada Jabado, Françoise Le.

Presentation transcript:

Fibrodysplasia Ossificans Progressiva, a Heritable Disorder of Severe Heterotopic Ossification, Maps to Human Chromosome 4q27-31* George Feldman, Ming Li, Shelden Martin, Margrit Urbanek, J. Andoni Urtizberea, Michel Fardeau, Martine LeMerrer, J. Michael Connor, James Triffitt, Roger Smith, Maximilian Muenke, Frederick S. Kaplan, Eileen M. Shore The American Journal of Human Genetics Volume 66, Issue 1, Pages 128-135 (January 2000) DOI: 10.1086/302724 Copyright © 2000 The American Society of Human Genetics Terms and Conditions

Figure 1 Clinical findings in FOP. A, Radiographs of the feet at age 4 mo in a child with FOP. The soft-tissue shadows clearly outline the short in-turned great toes due to malformed delta-shaped proximal phalanges (arrowheads), one of the common variations of great-toe malformations seen in FOP. B, Multiple variable-size soft-tissue nodules (preosseous fibroproliferative lesions) on the back of a 4-year-old child with FOP. These fibroproliferative lesions are frequently the first indication of heterotopic ossification in a child. C and D, Clinical appearance and skeleton of a man with FOP. The rigid posture in this 25-year-old man was due to ankylosis of the spine, shoulders, and elbows. He died of pneumonia at age 40 years. Plates and ribbons of ectopic bone contour the skin over the back and arms (C) and can be seen directly on the skeleton (D). (Courtesy of the Mutter Museum, College of Physicians of Philadelphia; reproduced with permission from Shafritz et al. [1996].) The American Journal of Human Genetics 2000 66, 128-135DOI: (10.1086/302724) Copyright © 2000 The American Society of Human Genetics Terms and Conditions

Figure 2 Pedigrees of families with FOP with genotypes for markers from chromosome 4q27-31. Standard pedigree notation is used: circles and squares denote females and males, respectively; blackened symbols indicate affected individuals; and generations are indicated by Roman numerals to the left of the pedigrees (only individuals from whom genotyping data was obtained are numbered). Haplotypes for the markers shown on the left are listed below the symbols for the family members. The haplotype cosegregating with the disorder in each family is boxed. The American Journal of Human Genetics 2000 66, 128-135DOI: (10.1086/302724) Copyright © 2000 The American Society of Human Genetics Terms and Conditions

Figure 3 Combined multipoint LOD scores for the markers in the 4q27-31 region in four families with FOP. Multipoint LOD scores were calculated for each of the markers indicated along the X-axis. The relative genetic distances of these markers, measured (in cM) from 4pter, were derived from the Research Genetics database. The American Journal of Human Genetics 2000 66, 128-135DOI: (10.1086/302724) Copyright © 2000 The American Society of Human Genetics Terms and Conditions

Figure 4 Localization of the FOP-linked interval on the long arm of human chromosome 4. Schematic representation of the 4q27-31 region shows some of the markers used in the genetic linkage analysis. The genetic distances between the markers are indicated and the cumulative genetic distances (in cM; pter is 0 cM) for the markers defining the proximal and distal boundaries of the linked interval are shown in parentheses, under the marker names. Blackened squares denote regions of allele sharing among affected individuals; open squares represent recombinant regions. Crossovers in individual III-4 from family 3 identified the proximal boundary, and those in individual III-2 from family 3 identified the distal boundary. The American Journal of Human Genetics 2000 66, 128-135DOI: (10.1086/302724) Copyright © 2000 The American Society of Human Genetics Terms and Conditions