Hereditary Isolated Renal Magnesium Loss Maps to Chromosome 11q23

Slides:



Advertisements
Similar presentations
Linkage and Association Studies Identify a Novel Locus for Alzheimer Disease at 7q36 in a Dutch Population-Based Sample  Rosa Rademakers, Marc Cruts,
Advertisements

A New Locus for Autosomal Recessive Hereditary Spastic Paraplegia Maps to Chromosome 16q24.3  Giuseppe De Michele, Maurizio De Fusco, Francesca Cavalcanti,
The Gene for Glycogen-Storage Disease Type 1b Maps to Chromosome 11q23
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.
A Novel Locus for Familial Amyotrophic Lateral Sclerosis, on Chromosome 18q  Collette K. Hand, Jawad Khoris, François Salachas, François Gros-Louis, Ana.
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
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.
Genomewide Linkage Scan Identifies a Novel Susceptibility Locus for Restless Legs Syndrome on Chromosome 9p  Shenghan Chen, William G. Ondo, Shaoqi Rao,
C. M. van Duijn, M. C. J. Dekker, V. Bonifati, R. J. Galjaard, J. J
L. M. Downey, T. J. Keen, E. Roberts, D. C. Mansfield, M. Bamashmus, C
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
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,
A Gene Mutated in Nephronophthisis and Retinitis Pigmentosa Encodes a Novel Protein, Nephroretinin, Conserved in Evolution  Edgar Otto, Julia Hoefele,
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.
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 
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 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,
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
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,
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,
A Novel Locus for Familial Amyotrophic Lateral Sclerosis, on Chromosome 18q  Collette K. Hand, Jawad Khoris, François Salachas, François Gros-Louis, Ana.
Assignment of the Gene for a New Hereditary Nail Disorder, Isolated Congenital Nail Dysplasia, to Chromosome 17p13  Alice Krebsová, Henning Hamm, Susanne.
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 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,
Localization of a Gene for Duane Retraction Syndrome to Chromosome 2q31  Binoy Appukuttan, Elizabeth Gillanders, Suh-Hang Juo, Diana Freas-Lutz, Sandra.
Fibrodysplasia Ossificans Progressiva, a Heritable Disorder of Severe Heterotopic Ossification, Maps to Human Chromosome 4q27-31*  George Feldman, Ming.
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.
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.
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,
Identification of a Novel Locus for Marie Unna Hereditary Hypotrichosis to a 17.5 cM Interval at 1p21.1–1q21.3  Sen Yang, Min Gao, Yong Cui, Kai-Lin Yan,
Mapping of Gene Loci for Nephronophthisis Type 4 and Senior-Løken Syndrome, to Chromosome 1p36  Maria J. Schuermann, Edgar Otto, Achim Becker, Katrin.
Genomewide Search and Genetic Localization of a Second Gene Associated with Autosomal Dominant Branchio-Oto-Renal Syndrome: Clinical and Genetic Implications 
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,
Identification of a New Gene Locus for Adolescent Nephronophthisis, on Chromosome 3q22 in a Large Venezuelan Pedigree  Heymut Omran, Carmen Fernandez,
Simone Sanna-Cherchi, Gianluca Caridi, Patricia L
Telomeric refinement of the MCKD1 locuson chromosome 1q21*
Assignment of the Muscle-Eye-Brain Disease Gene to 1p32-p34 by Linkage Analysis and Homozygosity Mapping  Bru Cormand, Kristiina Avela, Helena Pihko,
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,
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 and Association Studies Identify a Novel Locus for Alzheimer Disease at 7q36 in a Dutch Population-Based Sample  Rosa Rademakers, Marc Cruts,
Presentation transcript:

Hereditary Isolated Renal Magnesium Loss Maps to Chromosome 11q23 Iwan C. Meij, Kathrin Saar, Lambert P.W.J. van den Heuvel, Gudrun Nuernberg, Martin Vollmer, Friedhelm Hildebrandt, André Reis, Leo A.H. Monnens, Nine V.A.M. Knoers  The American Journal of Human Genetics  Volume 64, Issue 1, Pages 180-188 (January 1999) DOI: 10.1086/302199 Copyright © 1999 The American Society of Human Genetics Terms and Conditions

Figure 1 Pedigrees of families A and B, with autosomal dominant isolated renal hypomagnesemia. Blackened symbols denote affected family members. For haplotypes, linked genotypes are depicted as blackened bars; inferred phenotypes are within parentheses, and, if unknown, are denoted by a question mark (?); and critical recombinants (in individuals III.10 and III.12 in family A) are indicated by an upward-facing arrow (↑). The proband in family A could not be haplotyped. In each family, the proband is indicated by an asterisk (*). The American Journal of Human Genetics 1999 64, 180-188DOI: (10.1086/302199) Copyright © 1999 The American Society of Human Genetics Terms and Conditions

Figure 1 Pedigrees of families A and B, with autosomal dominant isolated renal hypomagnesemia. Blackened symbols denote affected family members. For haplotypes, linked genotypes are depicted as blackened bars; inferred phenotypes are within parentheses, and, if unknown, are denoted by a question mark (?); and critical recombinants (in individuals III.10 and III.12 in family A) are indicated by an upward-facing arrow (↑). The proband in family A could not be haplotyped. In each family, the proband is indicated by an asterisk (*). The American Journal of Human Genetics 1999 64, 180-188DOI: (10.1086/302199) Copyright © 1999 The American Society of Human Genetics Terms and Conditions

Figure 2 Left, Ideogram of chromosome 11. a, Closest recombinants (in individuals III.10 and III.12 in family A), limiting the linkage interval to a 5.6-cM region between D11S4142 and D11S4171. Marker D11S924 was not informative for individual III.12. b, Inferred haplotypes of the great-grandfathers (individuals I.1 and I.3 in families A and B, respectively). Recombinations defining the haplotype-shared region were divided arbitrarily between both individuals. Haplotype sharing is shown between D11S4111 and D11S4107. The American Journal of Human Genetics 1999 64, 180-188DOI: (10.1086/302199) Copyright © 1999 The American Society of Human Genetics Terms and Conditions

Figure 3 Four-point analysis (disease locus and three marker loci), calculated by VITESSE (O'Connell and Weeks 1995), for the region from marker D11S927 to marker D11S934. The highest LOD score (8.24) is indicated by a downward-pointing arrowhead (▾). The American Journal of Human Genetics 1999 64, 180-188DOI: (10.1086/302199) Copyright © 1999 The American Society of Human Genetics Terms and Conditions