A Second Gene for Autosomal Dominant Möbius Syndrome Is Localized to Chromosome 10q, in a Dutch Family H.T.F.M. Verzijl, B. van den Helm, B. Veldman,

Slides:

Advertisements

Similar presentations

A Gene for Autosomal Recessive Symmetrical Spastic Cerebral Palsy Maps to Chromosome 2q24-25 D.P. McHale, S. Mitchell, S. Bundey, L. Moynihan, D.A. Campbell,

Advertisements

Connexin Mutations in Skin Disease and Hearing Loss David P. Kelsell, Wei-Li Di, Mark J. Houseman The American Journal of Human Genetics Volume 68, Issue.

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

Gene Preference in Maple Syrup Urine Disease Mary M. Nellis, Dean J. Danner The American Journal of Human Genetics Volume 68, Issue 1, Pages (January.

Design and Multiseries Validation of a Web-Based Gene Expression Assay for Predicting Breast Cancer Recurrence and Patient Survival Ryan K. Van Laar The.

Peopling of Sahul: mtDNA Variation in Aboriginal Australian and Papua New Guinean Populations Alan J. Redd, Mark Stoneking The American Journal of Human.

The Trimmed-Haplotype Test for Linkage Disequilibrium

A New Locus for Autosomal Recessive Hereditary Spastic Paraplegia Maps to Chromosome 16q24.3 Giuseppe De Michele, Maurizio De Fusco, Francesca Cavalcanti,

Human Pedigree-Based Quantitative-Trait–Locus Mapping: Localization of Two Genes Influencing HDL-Cholesterol Metabolism Laura Almasy, James E. Hixson,

Multicentric Origin of Hemochromatosis Gene (HFE) Mutations

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

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.

Mapping of X-Linked Myxomatous Valvular Dystrophy to Chromosome Xq28

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

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

D. E. Grice, K. A. Halmi, M. M. Fichter, M. Strober, D. B. Woodside, J

Genetic Linkage Analysis of a Dichotomous Trait Incorporating a Tightly Linked Quantitative Trait in Affected Sib Pairs Jian Huang, Yanming Jiang The.

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

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

Linkage Thresholds for Two-stage Genome Scans

A Combined Linkage-Physical Map of the Human Genome

The Novel Genetic Disorder Microhydranencephaly Maps to Chromosome 16p

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

The American Journal of Human Genetics

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

Kristina Allen-Brady, Peggy A. Norton, James M

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

Further evidence for linkage of autosomal-dominant medullary cystic kidney disease on chromosome 1q21 Mari Auranen, Sirpa Ala-Mello, Joni A. Turunen,

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

Figure 2 Linkage analysis of chromosome 19

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

The Gene for Naegeli–Franceschetti–Jadassohn Syndrome Maps to 17q21

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

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

Erratum The American Journal of Human Genetics

Genetic Linkage of Hereditary Gingival Fibromatosis to Chromosome 2p21

Michael P. Epstein, Xihong Lin, Michael Boehnke

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

On a Randomization Procedure in Linkage Analysis

D. E. Grice, K. A. Halmi, M. M. Fichter, M. Strober, D. B. Woodside, J

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,

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

Deleterious Mutations in the Zinc-Finger 469 Gene Cause Brittle Cornea Syndrome Almogit Abu, Moshe Frydman, Dina Marek, Eran Pras, Uri Nir, Haike Reznik-Wolf,

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

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

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

Genome Screen to Identify Susceptibility Genes for Parkinson Disease in a Sample without parkin Mutations Nathan Pankratz, William C. Nichols, Sean K.

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

Alice S. Whittemore, Jerry Halpern

Homozygosity Mapping Places the Acrodermatitis Enteropathica Gene on Chromosomal Region 8q24.3 Kun Wang, Elizabeth W. Pugh, Shari Griffen, Kimberly F.

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

Genetic Linkage Analysis of a Dichotomous Trait Incorporating a Tightly Linked Quantitative Trait in Affected Sib Pairs Jian Huang, Yanming Jiang The.

Sanjay Shete, Xiaojun Zhou, Christopher I. Amos

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,

Mark Gibbs, Janet L. Stanford, Gail P

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:

A Second Gene for Autosomal Dominant Möbius Syndrome Is Localized to Chromosome 10q, in a Dutch Family H.T.F.M. Verzijl, B. van den Helm, B. Veldman, B.C.J. Hamel, L.P. Kuyt, G.W. Padberg, H. Kremer The American Journal of Human Genetics Volume 65, Issue 3, Pages 752-756 (September 1999) DOI: 10.1086/302539 Copyright © 1999 The American Society of Human Genetics Terms and Conditions

Figure 1 Pedigree of the family and haplotypes of individuals available for this study. The ancestral mutation-bearing chromosome is boxed. Lines beside the haplotypes mark the part of the ancestral chromosome present in the patients. Deduced haplotypes are given between brackets. The American Journal of Human Genetics 1999 65, 752-756DOI: (10.1086/302539) Copyright © 1999 The American Society of Human Genetics Terms and Conditions

Figure 2 Five-point linkage analysis combined with the sliding window technique, resulting in a maximum LOD score of 6.2 in the interval between D10S581 and D10S557. The American Journal of Human Genetics 1999 65, 752-756DOI: (10.1086/302539) Copyright © 1999 The American Society of Human Genetics Terms and Conditions