Genetic Mapping to 10q23.3-q24.2, in a Large Italian Pedigree, of a New Syndrome Showing Bilateral Cataracts, Gastroesophageal Reflux, and Spastic Paraparesis.

Slides:

Advertisements

Similar presentations

Genetic Mapping to 10q23.3-q24.2, in a Large Italian Pedigree, of a New Syndrome Showing Bilateral Cataracts, Gastroesophageal Reflux, and Spastic Paraparesis.

Advertisements

Novel PMS2 Pseudogenes Can Conceal Recessive Mutations Causing a Distinctive Childhood Cancer Syndrome Michel De Vos, Bruce E. Hayward, Susan Picton, Eamonn.

A Rare Haplotype of the RET Proto-Oncogene Is a Risk-Modifying Allele in Hirschsprung Disease Paola Griseri, Barbara Pesce, Giovanna Patrone, Jan Osinga,

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,

The Novel Genetic Disorder Microhydranencephaly Maps to Chromosome 16p

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

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

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

Mapping of a Locus for a Familial Autosomal Recessive Idiopathic Myoclonic Epilepsy of Infancy to Chromosome 16p13 Federico Zara, Elena Gennaro, Mariano.

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.

Genetic Linkage of Paget Disease of the Bone to Chromosome 18q

Genetic Heterogeneity in Italian Families with IgA Nephropathy: Suggestive Linkage for Two Novel IgA Nephropathy Loci Luigi Bisceglia, Giuseppina Cerullo,

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.

Location Score and Haplotype Analyses of the Locus for Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay, in Chromosome Region 13q11 Andrea Richter,

A Gene for Pyridoxine-Dependent Epilepsy Maps to Chromosome 5q31

Evidence for Sex-Specific Risk Alleles in Autism Spectrum Disorder

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

A Larger Spectrum of Intragenic Short Tandem Repeats Improves Linkage Analysis and Localization of Intragenic Recombination Detection in the Dystrophin.

A Combined Linkage-Physical Map of the Human Genome

A. Vanita, Jai Rup Singh, Virinder K

The Novel Genetic Disorder Microhydranencephaly Maps to Chromosome 16p

Use of Closely Related Affected Individuals for the Genetic Study of Complex Diseases in Founder Populations C. Bourgain, E. Génin, P. Holopainen, K.

Consanguinity in Saudi Arabia: A Unique Opportunity for Pediatric Kidney Research Jameela A. Kari, MD, FRCP, Detlef Bockenhauer, MD, PhD, Horia Stanescu,

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

GeneTests: Integrating Genetic Services into Patient Care*

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,

Brooke–Spiegler Syndrome Locus Assigned to 16q12-q13

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

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

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,

Todor Arsov, Katherine R

Airong Li, Sonia Davila, Laszlo Furu, Qi Qian, Xin Tian, Patrick S

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,

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

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

Mapping of a Locus for a Familial Autosomal Recessive Idiopathic Myoclonic Epilepsy of Infancy to Chromosome 16p13 Federico Zara, Elena Gennaro, Mariano.

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 Syndrome of Severe Mental Retardation, Spasticity, and Tapetoretinal Degeneration Linked to Chromosome 15q24 S.J. Mitchell, D.P. McHale, D.A. Campbell,

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

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

Erratum The American Journal of Human Genetics

Genetic Linkage of Hereditary Gingival Fibromatosis to Chromosome 2p21

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.

A New Essential Hypertension Susceptibility Locus on Chromosome 2p24-p25, Detected by Genomewide Search Andrea Angius, Enrico Petretto, Giovanni Battista.

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.

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

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

A New Locus for Autosomal Recessive Hypercholesterolemia Maps to Human Chromosome 15q25-q26 Milco Ciccarese, Adolfo Pacifico, Giancarlo Tonolo, Paolo.

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

Simone Sanna-Cherchi, Gianluca Caridi, Patricia L

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.

A Chromosomal Deletion Map of Human Malformations

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,

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,

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

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

Presentation transcript:

Genetic Mapping to 10q23.3-q24.2, in a Large Italian Pedigree, of a New Syndrome Showing Bilateral Cataracts, Gastroesophageal Reflux, and Spastic Paraparesis with Amyotrophy Marco Seri, Roberto Cusano, Paola Forabosco, Roberta Cinti, Francesco Caroli, Paolo Picco, Rita Bini, Vincenzo Brescia Morra, Giuseppe De Michele, Margherita Lerone, Margherita Silengo, Ivana Pela, Carla Borrone, Giovanni Romeo, Marcella Devoto The American Journal of Human Genetics Volume 64, Issue 2, Pages 586-593 (February 1999) DOI: 10.1086/302241 Copyright © 1999 The American Society of Human Genetics Terms and Conditions

Figure 1 The pedigree of the family with haplotype reconstruction for informative markers on 10q23.3-q24.2. The “at-risk” haplotype is boxed. Arrows indicate the boundaries of the critical interval identified. The LOD score values at θ=0 for the different markers are reported. The American Journal of Human Genetics 1999 64, 586-593DOI: (10.1086/302241) Copyright © 1999 The American Society of Human Genetics Terms and Conditions

Figure 2 Schematic representation of the chromosomal region 10q23.3-q24.2, to which the syndrome described in the present study has been assigned. The overlapping of the critical interval with the regions to which other disorders have been mapped is reported. Cen = centromere; Tel = telomere; IOSCA = infantile-onset spinocerebellar ataxia; EPT = partial epilepsy; UFS = urofacial syndrome; and CDTB = corneal dystrophy, Thiel-Behnke type. The American Journal of Human Genetics 1999 64, 586-593DOI: (10.1086/302241) Copyright © 1999 The American Society of Human Genetics Terms and Conditions