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

Slides:

Advertisements

Similar presentations

Autosomal Dominant Postaxial Polydactyly, Nail Dystrophy, and Dental Abnormalities Map to Chromosome 4p16, in the Region Containing the Ellis–van Creveld.

Advertisements

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

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

A Second Locus for Familial Generalized Epilepsy with Febrile Seizures Plus Maps to Chromosome 2q21-q33 Stéphanie Baulac, Isabelle Gourfinkel-An, Fabienne.

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.

Familial Deafness, Congenital Heart Defects, and Posterior Embryotoxon Caused by Cysteine Substitution in the First Epidermal-Growth-Factor–Like Domain.

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,

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

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.

Genomewide Scan for Nonsyndromic Cleft Lip and Palate in Multigenerational Indian Families Reveals Significant Evidence of Linkage at 13q Uppala.

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,

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

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

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.

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,

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

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

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.

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

A Recurrent Expansion of a Maternal Allele with 36 CAG Repeats Causes Huntington Disease in Two Sisters Franco Laccone, Wilhelm Christian The American.

Claus Skaanning Jensen, Augustine Kong

Koji Suzuki, Tania Bustos, Richard A. Spritz

Genetic Linkage of Hereditary Gingival Fibromatosis to Chromosome 2p21

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

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.

Localization of the Fourth Locus (GLC1E) For Adult-Onset Primary Open-Angle Glaucoma to the 10p15-p14 Region Mansoor Sarfarazi, Anne Child, Diliana Stoilova,

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

Recurrence of Marfan Syndrome as a Result of Parental Germ-Line Mosaicism for an FBN1 Mutation Terhi Rantamäki, Ilkka Kaitila, Ann-Christine Syvänen,

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

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,

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

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,

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

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.

Mutation Analysis of UBE3A in Angelman Syndrome Patients

Arun Kumar, Satish C. Girimaji, Mahesh R. Duvvari, Susan H. Blanton

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

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

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

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,

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:

Mapping of Primary Congenital Lymphedema to the 5q35.3 Region Alison L. Evans, Glen Brice, Vihra Sotirova, Peter Mortimer, Joseph Beninson, Kevin Burnand, Jane Rosbotham, Anne Child, Mansoor Sarfarazi The American Journal of Human Genetics Volume 64, Issue 2, Pages 547-555 (February 1999) DOI: 10.1086/302248 Copyright © 1999 The American Society of Human Genetics Terms and Conditions

Figure 1 Pedigree structure and genotypic data for the North American family, PCL-900. The order of seven most telomeric polymorphic DNA markers on the 5q35.3 region are shown at the top of the pedigree. The inherited affected haplotypes are denoted by blackened bars, and the normal haplotypes are denoted by unblackened bars. The three normal males carrying the affected haplotypes are shown with a dot inside their symbols. Note that no telomeric recombination has been observed in this pedigree. However, two individuals (individuals III:40 and III:44) have recombined for the first four markers shown here; but they are not recombinants for the most telomeric marker of D5S2006. The exact site of recombination for the two markers of D5S1354 and D5S408 cannot be determined in these two individuals. Therefore, the PCL locus in this family maps below the SNP marker of WIAF-2213. The American Journal of Human Genetics 1999 64, 547-555DOI: (10.1086/302248) Copyright © 1999 The American Society of Human Genetics Terms and Conditions

Figure 2 Pedigree structure of four PCL British families. The order of markers is shown. Haplotypes are denoted as in fig. 1. There are no affected recombinations for any of the markers shown in these pedigrees. Note that in PCL-102 individual III:4 has inherited the affected haplotype but is clinically unaffected. The American Journal of Human Genetics 1999 64, 547-555DOI: (10.1086/302248) Copyright © 1999 The American Society of Human Genetics Terms and Conditions

Figure 3 A, Swelling of right foot, since birth, in a 6-year-old child (fig. 1, individual IV:8). B, Marked swelling, with papillomatosis and nail changes, in a 70-year-old man (fig. 1, individual II:1). C, Bilateral swelling, since birth, in a 45-year-old man (fig. 1, individual III:1). D, Right foot of individual III:1, immediately after removal of compression hosiery, demonstrating papillomatosis. The American Journal of Human Genetics 1999 64, 547-555DOI: (10.1086/302248) Copyright © 1999 The American Society of Human Genetics Terms and Conditions