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

Slides:



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

The Trimmed-Haplotype Test for Linkage Disequilibrium
The Gene for Glycogen-Storage Disease Type 1b Maps to Chromosome 11q23
Identification of a Major Susceptibility Locus for Restless Legs Syndrome on Chromosome 12q  Alex Desautels, Gustavo Turecki, Jacques Montplaisir, Adolfo.
Transmission/Disequilibrium Tests for Extended Marker Haplotypes
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
Fine Localization of the Nijmegen Breakage Syndrome Gene to 8q21: Evidence for a Common Founder Haplotype  Karen M. Cerosaletti, Ethan Lange, Heather.
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,
L. M. Downey, T. J. Keen, E. Roberts, D. C. Mansfield, M. Bamashmus, C
A Gene for Hypotrichosis Simplex of the Scalp Maps to Chromosome 6p21
A. Vanita, Jai Rup Singh, Virinder K
The Gene for Glycogen-Storage Disease Type 1b Maps to Chromosome 11q23
The Novel Genetic Disorder Microhydranencephaly Maps to Chromosome 16p  
Tamara Rogers, David Chandler, Dora Angelicheva, P. K
Use of Closely Related Affected Individuals for the Genetic Study of Complex Diseases in Founder Populations  C. Bourgain, E. Génin, P. Holopainen, 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
Ehlers-Danlos Syndrome with Severe Early-Onset Periodontal Disease (EDS-VIII) Is a Distinct, Heterogeneous Disorder with One Predisposition Gene at Chromosome.
An Immune Defect Causing Dominant Chronic Mucocutaneous Candidiasis and Thyroid Disease Maps to Chromosome 2p in a Single Family  T. Prescott Atkinson,
Inversa Acne (Hidradenitis Suppurativa): A Case Report and Identification of the Locus at Chromosome 1p21.1–1q25.3  Min Gao, Pei-Guang Wang, Yong Cui,
A Third Major Locus for Autosomal Dominant Hypercholesterolemia Maps to 1p34.1- p32  Mathilde Varret, Jean-Pierre Rabès, Bruno Saint-Jore, Ana Cenarro,
Brooke–Spiegler Syndrome Locus Assigned to 16q12-q13
Use of a Quantitative Trait to Map a Locus Associated with Severity of Positive Symptoms in Familial Schizophrenia to Chromosome 6p  L.M. Brzustowicz,
Howard B. Yeon, Noralane M. Lindor, J.G. Seidman, Christine E. Seidman 
Tristan F. W. McMullan, Andrew R. Collins, Anthony G. Tyers, David O
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.
Two Families with Familial Amyotrophic Lateral Sclerosis Are Linked to a Novel Locus on Chromosome 16q  Deborah M. Ruddy, Matthew J. Parton, Ammar Al-Chalabi,
Refinement of the Locus for Autosomal Recessive Retinitis Pigmentosa (RP25) Linked to Chromosome 6q in a Family of Pakistani Origin  Shagufta Khaliq,
Christoph Lange, Nan M. Laird  The American Journal of Human Genetics 
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.
Mitochondrial Complex III Deficiency Associated with a Homozygous Mutation in UQCRQ  Ortal Barel, Zamir Shorer, Hagit Flusser, Rivka Ofir, Ginat Narkis,
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,
Claus Skaanning Jensen, Augustine Kong 
Koji Suzuki, Tania Bustos, Richard A. Spritz 
Erratum The American Journal of Human Genetics
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.
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.
Evidence That the Penetrance of Mutations at the RP11 Locus Causing Dominant Retinitis Pigmentosa Is Influenced by a Gene Linked to the Homologous RP11.
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 Progressive Autosomal Recessive Cataract Locus Maps to Chromosome 9q13-q22  Elise Héon, Andrew D. Paterson, Michael Fraser, Gail Billingsley, Megan Priston,
Molecular and Clinical Study of 18 Families with ADCA Type II: Evidence for Genetic Heterogeneity and De Novo Mutation  P. Giunti, G. Stevanin, P.F. Worth,
Hereditary Isolated Renal Magnesium Loss Maps to Chromosome 11q23
Familial Nontoxic Multinodular Thyroid Goiter Locus Maps to Chromosome 14q but Does Not Account for Familial Nonmedullary Thyroid Cancer  Graham R. Bignell,
Oligodontia Is Caused by Mutation in LTBP3, the Gene Encoding Latent TGF-β Binding Protein 3  Abdul Noor, Christian Windpassinger, Irina Vitcu, Marija.
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.
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,
Alice S. Whittemore, Jerry Halpern 
Homozygosity Mapping in Families with Joubert Syndrome Identifies a Locus on Chromosome 9q34.3 and Evidence for Genetic Heterogeneity  Kathrin Saar, Lihadh.
Minimum-Recombinant Haplotyping in Pedigrees
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,
Gonçalo R. Abecasis, Janis E. Wigginton 
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,
Genetic Analysis of Families with Parkinson Disease that Carry the Ala53Thr Mutation in the Gene Encoding α-Synuclein  Aglaia Athanassiadou, Gerassimos.
Presentation transcript:

Fine Mapping of the Split-Hand/Split-Foot Locus (SHFM3) at 10q24: Evidence for Anticipation and Segregation Distortion  Rýdvan S. Özen, Bora E. Baysal, Bernie Devlin, Joan E. Farr, Michael Gorry, Garth D. Ehrlich, Charles W. Richard  The American Journal of Human Genetics  Volume 64, Issue 6, Pages 1646-1654 (June 1999) DOI: 10.1086/302403 Copyright © 1999 The American Society of Human Genetics Terms and Conditions

Figure 1 Turkish SHFM pedigree. Blackened symbols represent clinically affected individuals, and unblackened symbols represent unaffected individuals. Numbers within symbols represent the number of unaffected offspring and their unaffected descendants, collapsed for clarity and space limitations. The American Journal of Human Genetics 1999 64, 1646-1654DOI: (10.1086/302403) Copyright © 1999 The American Society of Human Genetics Terms and Conditions

Figure 2 Summary of clinical findings in affected relatives with SHFM The American Journal of Human Genetics 1999 64, 1646-1654DOI: (10.1086/302403) Copyright © 1999 The American Society of Human Genetics Terms and Conditions

Figure 3 Anticipation in SHFM3. Three-generational worsening of SHFM phenotype. Numbers refer to pedigree member numbering shown in figure 1. The American Journal of Human Genetics 1999 64, 1646-1654DOI: (10.1086/302403) Copyright © 1999 The American Society of Human Genetics Terms and Conditions

Figure 4 Genetic crossover events in the Turkish SHFM family and a genetic map of selected 10q23.1-10q24.3 STRP markers are shown. Genetic map distances are taken from the Whitehead/MIT Center for Genome Research. The dark gray bars represent the SHFM3 disease haplotype. Above the bar, the pedigree number and affection status are shown. A = affected, and U = unaffected. Alleles within the lightly shaded bar of individual 58 were uninformative. The American Journal of Human Genetics 1999 64, 1646-1654DOI: (10.1086/302403) Copyright © 1999 The American Society of Human Genetics Terms and Conditions