A Family with Isolated Hyperparathyroidism Segregating a Missense MEN1 Mutation and Showing Loss of the Wild-Type Alleles in the Parathyroid Tumors Bin.

Slides:

Advertisements

Similar presentations

Previous Estimates of Mitochondrial DNA Mutation Level Variance Did Not Account for Sampling Error: Comparing the mtDNA Genetic Bottleneck in Mice and.

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.

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.

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

Meiotic Segregation Analysis of RB1 Alleles in Retinoblastoma Pedigrees by Use of Single-Sperm Typing Anne Girardet, Mary Sara McPeek, Esther P. Leeflang,

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.

P. M. Kelley, D. J. Harris, B. C. Comer, J. W. Askew, T. Fowler, S. D

Whole exome sequencing identified a novel missense mutation in EPM2A underlying Lafora disease in a Pakistani family Zain Aslam, Eungi Lee, Mazhar Badshah,

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

Frances Busfield, David L. Duffy, Janine B. Kesting, Shelley M

The Gene for Glycogen-Storage Disease Type 1b Maps to Chromosome 11q23

A HOX Gene Mutation in a Family with Isolated Congenital Vertical Talus and Charcot- Marie-Tooth Disease Antony E. Shrimpton, E. Mark Levinsohn, Justin.

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

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

Complement Factor H Gene Mutation Associated with Autosomal Recessive Atypical Hemolytic Uremic Syndrome Lihua Ying, Yitzhak Katz, Menachem Schlesinger,

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

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,

Duplication of the MECP2 Region Is a Frequent Cause of Severe Mental Retardation and Progressive Neurological Symptoms in Males Hilde Van Esch, Marijke.

Activation of a Cryptic Splice Site of PTEN and Loss of Heterozygosity in Benign Skin Lesions in Cowden Disease Stephen J. Meltzer, Manfred Wolter Journal.

Inherited Mutations in PTEN That Are Associated with Breast Cancer, Cowden Disease, and Juvenile Polyposis Eric D. Lynch, Elizabeth A. Ostermeyer, Ming.

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

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

Per M. Knappskog, Jacek Majewski, Avi Livneh, Per Torgeir E

J. H. D. Bassett, S. A. Forbes, A. A. J. Pannett, S. E. Lloyd, P. T

A Gene for Familial Juvenile Polyposis Maps to Chromosome 18q21.1

Kimberly C. Sippel, Rebecca E. Fraioli, Gary D. Smith, Mary E

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.

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.

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

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,

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

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.

Vandana Shashi, Margaret N. Berry, Sarah Shoaf, James J

Dominique J. Verlaan, Adrian M. Siegel, Guy A. Rouleau

Volume 58, Issue 2, Pages (August 2000)

Hyperchlorhidrosis Caused by Homozygous Mutation in CA12, Encoding Carbonic Anhydrase XII Maya Feldshtein, Suliman Elkrinawi, Baruch Yerushalmi, Barak.

Mutation Analysis of the Entire PKD1 Gene: Genetic and Diagnostic Implications Sandro Rossetti, Lana Strmecki, Vicki Gamble, Sarah Burton, Vicky Sneddon,

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,

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,

Identification of Recurrent Mutations in the ARS (Component B) Gene Encoding SLURP-1 in Two Families with Mal de Meleda Kimberley Morine Ward, Jülide.

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

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

Volume 57, Issue 1, Pages (January 2000)

Mutations in CHEK2 Associated with Prostate Cancer Risk

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

Identification of a New Candidate Locus for Uric Acid Nephrolithiasis

A Gene for Autosomal Recessive Spondylocostal Dysostosis Maps to 19q13

Alexandre Irrthum, Marika J

Kit-Sing Au, Adelaide A. Hebert, E. Steve Roach, Hope Northrup

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

Duplication of the MECP2 Region Is a Frequent Cause of Severe Mental Retardation and Progressive Neurological Symptoms in Males Hilde Van Esch, Marijke.

Homozygous WNT3 Mutation Causes Tetra-Amelia in a Large Consanguineous Family Stephan Niemann, Chengfeng Zhao, Filon Pascu, Ulrich Stahl, Ute Aulepp,

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:

A Family with Isolated Hyperparathyroidism Segregating a Missense MEN1 Mutation and Showing Loss of the Wild-Type Alleles in the Parathyroid Tumors Bin T. Teh, Christopher T. Esapa, Richard Houlston, Ulla Grandell, Filip Farnebo, Magnus Nordenskjöld, Christopher J. Pearce, David Carmichael, Catharina Larsson, Philip E. Harris The American Journal of Human Genetics Volume 63, Issue 5, Pages 1544-1549 (November 1998) DOI: 10.1086/302097 Copyright © 1998 The American Society of Human Genetics Terms and Conditions

Figure 1 a, Pedigree showing the family with autosomal dominantly inherited isolated hyperparathyroidism. Blackened symbols indicate affected family members, and unblackened symbols indicate unaffected family members. The gray-shaded symbol indicates that the individual (I-1) probably is affected, and the symbols with a question mark (?), in generation IV, indicate that the individuals are still at risk. The results from mutation analysis using restriction cleavage are shown below the pedigree. b, Illustration showing the HindIII site created by the E255K mutation. The American Journal of Human Genetics 1998 63, 1544-1549DOI: (10.1086/302097) Copyright © 1998 The American Society of Human Genetics Terms and Conditions

Figure 2 Autoradiograms showing LOH in the whole of chromosome 11 in parathyroid tumor 1 from patient II-3 (D11S419, D11S787, and D11S1378) and in two of the three tumors from patient III-4 (HBB, D11S956, PYGM, INT2, and TYR). Lane B, Leukocyte DNA. Lane T, Tumor DNA. The American Journal of Human Genetics 1998 63, 1544-1549DOI: (10.1086/302097) Copyright © 1998 The American Society of Human Genetics Terms and Conditions