Anthony M. Raizis, Martin M. Ferguson, David T. Nicholls, Derek W

Slides:

Advertisements

Similar presentations

Germline and Somatic Mutations of the STK11/LKB1 Peutz-Jeghers Gene in Pancreatic and Biliary Cancers Gloria H. Su, Ralph H. Hruban, Ravi K. Bansal,

Advertisements

Detection of Exon 12 Mutations in the JAK2 Gene

DNA-based prenatal exclusion of harlequin ichthyosis

A Pseudo-Full Mutation Identified in Fragile X Assay Reveals a Novel Base Change Abolishing an EcoRI Restriction Site Shujian Liang, Harold N. Bass,

Yanggu Shi, Sharon F. Terry, Patrick F. Terry, Lionel G

Philippe Szankasi, Mohamed Jama, David W. Bahler

Herlitz Junctional Epidermolysis Bullosa: Novel and Recurrent Mutations in the LAMB3 Gene and the Population Carrier Frequency Aoi Nakano, Ellen Pfendner,

A Clinical Grade Sequencing-Based Assay for CEBPA Mutation Testing

Evidence Consistent with Human L1 Retrotransposition in Maternal Meiosis I Brook Brouha, Christof Meischl, Eric Ostertag, Martin de Boer, Yue Zhang, Herman.

Combination of a Novel Frameshift Mutation (1929delCA) and a Recurrent Nonsense Mutation (W610X) of the LAMB3 Gene in a Japanese Patient with Herlitz.

Novel Mutations in the BHD Gene and Absence of Loss of Heterozygosity in Fibrofolliculomas of Birt-Hogg-Dubé Patients Maurice A.M. van Steensel, Valerie.

Volume 54, Issue 3, Pages (September 1998)

Detection of Exon 12 Mutations in the JAK2 Gene

A Novel Mutation in the L12 Domain of Keratin 5 in the Köbner Variant of Epidermolysis Bullosa Simplex Philippa Galligan, Pawel Listwan, Gregory M. Siller,

A Novel Syndrome Combining Thyroid and Neurological Abnormalities Is Associated with Mutations in a Monocarboxylate Transporter Gene Alexandra M. Dumitrescu,

Analysis of Rare APC Variants at the mRNA Level

A Recurrent Intragenic Deletion in the Desmoglein 4 Gene Underlies Localized Autosomal Recessive Hypotrichosis Celia Moss, Amalia Martinez-Mir, HaMut.

Peter Ianakiev, Michael W

Splice Site and Deletion Mutations in Keratin (KRT1 and KRT10) Genes: Unusual Phenotypic Alterations in Scandinavian Patients with Epidermolytic Hyperkeratosis

Structure of the GM2A Gene: Identification of an Exon 2 Nonsense Mutation and a Naturally Occurring Transcript with an In-Frame Deletion of Exon 2 Biao.

Cycloheximide Facilitates the Identification of Aberrant Transcripts Resulting from a Novel Splice-Site Mutation in COL17A1 in a Patient with Generalized.

Survival of Male Patients with Incontinentia Pigmenti Carrying a Lethal Mutation Can Be Explained by Somatic Mosaicism or Klinefelter Syndrome The.

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.

Laurent Gouya Journal of Investigative Dermatology

A Multi-Exonic BRCA1 Deletion Identified in Multiple Families through Single Nucleotide Polymorphism Haplotype Pair Analysis and Gene Amplification with.

Hotspot Mutation of Brahma in Non-Melanoma Skin Cancer

Guofang Hu, Meltem Önder, Melissa Gill, Burhan Aksakal, Murat Öztas, M

Maternal Uniparental Meroisodisomy in the LAMB3 Region of Chromosome 1 Results in Lethal Junctional Epidermolysis Bullosa Yasuko Takizawa, Leena Pulkkinen,

A Recurrent Mutation in the ARS (Component B) Gene Encoding SLURP-1 in Turkish Families with Mal de Meleda: Evidence of a Founder Effect Guofang Hu,

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.

Deletion of the Cytoplasmatic Domain of BP180/Collagen XVII Causes a Phenotype with Predominant Features of Epidermolysis Bullosa Simplex Marcel Huber,

A Novel Point Mutation Affecting the Tyrosine Kinase Domain of the TRKA Gene in a Family with Congenital Insensitivity to Pain with Anhidrosis Shinichi.

Neil V. Whittock, Gabrielle H. S. Ashton, Patricia J. C

Amplification Refractory Mutation System, a Highly Sensitive and Simple Polymerase Chain Reaction Assay, for the Detection of JAK2 V617F Mutation in Chronic.

Novel Polymorphism in the FMR1 Gene Resulting in a “Pseudodeletion” of FMR1 in a Commonly Used Fragile X Assay Thomas M. Daly, Arash Rafii, Rick A. Martin,

A Rapid and Reliable Test for BRCA1 and BRCA2 Founder Mutation Analysis in Paraffin Tissue Using Pyrosequencing Liying Zhang, Tomas Kirchhoff, Cindy.

Olivier Rosmorduc, Raoul Poupon Gastroenterology

Volume 54, Issue 1, Pages (July 1998)

X-Linked Anhidrotic (Hypohidrotic) Ectodermal Dysplasia Caused by a Novel Mutation in EDA1 Gene: 406T>G (Leu55Arg) Francisco Martínez, José María Millán,

A Novel Arginine→Serine Mutation in EDA1 in a Japanese Family with X-Linked Anhidrotic Ectodermal Dysplasia Noriaki Aoki, Kaoru Ito, Toshiaki Tachibana,

Mutations in the Serum/Glucocorticoid Regulated Kinase 3 (Sgk3) Are Responsible for the Mouse Fuzzy (fz) Hair Phenotype Dean R. Campagna, Ángel O. Custodio,

Alternative Splicing in the α-Galactosidase A Gene: Increased Exon Inclusion Results in the Fabry Cardiac Phenotype Satoshi Ishii, Shoichiro Nakao, Reiko.

A Novel Recessive Connexin 31 (GJB3) Mutation in a Case of Erythrokeratodermia Variabilis Alessandro Terrinoni, Aida Leta, Cristina Pedicelli, Eleonora.

Ken-Ichi Egoshi, Koichiro Akakura, Takaomi Kodama, Haruo Ito

The Pro162 Variant is a Loss-of-Function Mutation of the Human Melanocortin 1 Receptor Gene Celia Jiménez-Cervantes, Concepción Olivares, Petra González,

Rapid Detection of Hotspot Mutations in Epidermal Growth Factor Receptor by Polymerase Chain Reaction Facilitates the Management of Non-small Cell Lung.

Masahide Yazaki, Sandra A. Farrell, Merrill D. Benson

Compound Heterozygosity for Novel Splice Site Mutations in the BPAG2/COL17A1 Gene Underlies Generalized Atrophic Benign Epidermolysis Bullosa Leena Pulkkinen,

Wook Lew Journal of Investigative Dermatology

Novel Transglutaminase 1 Gene Mutations (R348X/Y365D) in a Japanese Family with Lamellar Ichthyosis Atsushi Kon, MD, PhD, Hitoshi Takeda, Hideyuki Sasaki,

Identification of a Lethal Form of Epidermolysis Bullosa Simplex Associated with a Homozygous Genetic Mutation in Plectin Maryse Bonduelle, Linda De.

Volume 55, Issue 1, Pages (January 1999)

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

The 97 kDa Linear IgA Bullous Dermatosis Antigen is not Expressed in a Patient with Generalized Atrophic Benign Epidermolysis Bullosa with a Novel Homozygous.

Early Death from Cardiomyopathy in a Family with Autosomal Dominant Striate Palmoplantar Keratoderma and Woolly Hair Associated with a Novel Insertion.

A Mutation in the V1 Domain of K16 is Responsible for Unilateral Palmoplantar Verrucous Nevus Alessandro Terrinoni, Vincenzo De Laurenzi, Eleonora Candi,

Mutations in Fibroblast Growth-Factor Receptor 3 in Sporadic Cases of Achondroplasia Occur Exclusively on the Paternally Derived Chromosome Douglas J.

Genetic Association Between an AACC Insertion in the 3′UTR of the Stratum Corneum Chymotryptic Enzyme Gene and Atopic Dermatitis Y. Vasilopoulos, M.J.

CDKN2A and MC1R Mutations in Patients with Sporadic Multiple Primary Melanoma Ketty Peris, Maria Concetta Fargnoli, Alessia Pacifico, Tiziana Surrenti,

Gonosomal Mosaicism for a Nonsense Mutation (R1947X) in the NF1 Gene in Segmental Neurofibromatosis Type 1 Claudia Consoli, Celia Moss, Stuart Green,

Bart A. Jessen, Marjorie A. Phillips, Robert H. Rice

Is Screening of the Candidate Gene Necessary in Unrelated Partners of Members of Families with Herlitz Junctional Epidermolysis Bullosa? Alfred Klausegger,

Roland Kruse, Sven Cichon, Martina Anker, Axel M

Association of a polymorphism in the ornithine decarboxylase gene with male androgenetic alopecia Rachel A. Garton, MD, Amy J. McMichael, MD, Joel Sugarman,

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

Richard J. Wenstrup, Jane B. Florer, Marcia C

Familial Porphyria Cutanea Tarda: Characterization of Seven Novel Uroporphyrinogen Decarboxylase Mutations and Frequency of Common Hemochromatosis Alleles

Exon Skipping in IVD RNA Processing in Isovaleric Acidemia Caused by Point Mutations in the Coding Region of the IVD Gene Jerry Vockley, Peter K. Rogan,

Novel Mutations in the LAMB3 Gene Shared by Two Japanese Unrelated Families with Herlitz Junctional Epidermolysis Bullosa, and Their Application for Prenatal.

Identification of Novel pro-α2(IX) Collagen Gene Mutations in Two Families with Distinctive Oligo-Epiphyseal Forms of Multiple Epiphyseal Dysplasia Paul.

Presentation transcript:

A Novel 5′ (40^41insA) Mutation in a Patient with Numerous Manifestations of Cowden Disease Anthony M. Raizis, Martin M. Ferguson, David T. Nicholls, Derek W. Goodisson, Peter M. George Journal of Investigative Dermatology Volume 114, Issue 3, Pages 597-598 (March 2000) DOI: 10.1046/j.1523-1747.2000.02002.x Copyright © 2000 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 1 Genetic analysis of a family with Cowden disease. (a) Exon 1 sequence (Genbank AF000730) analysis of the PTEN gene. Exon 1 was amplified by PCR with primers, forward 5′-TCTGCCATCTCTCTCTCCTCCT-3′ and reverse 5′-TCCGTCTACTCCCACGTTCT-3′. DNA was sequenced using the forward primer and the proband is heterozygous for an A insertion at nucleotides 40–41 (asterisk). (b) Restriction analysis of the PTEN mutation 40^41InsA. To confirm the base substitution, a restriction enzyme assay was designed using a forward mutagenic primer 5′-CAAAGAGATCGTTAGCAGCCACAA-3′. To generate a BslI restriction site ‘‘CCN7GG’’ specific for the mutation, nucleotides 33–34 ‘‘AA’’ were replaced by ‘‘CC’’ (underlined above) such that BslI cleaves the mutant (40^41InsA) allele, where the number of nucleotides between ‘‘CC’’ and ‘‘GG’’ is seven, as opposed to six in the wild-type allele. The 132 bp PCR product produced was analyzed by PAGE electrophoresis after incubation and digestion with 5 U of BslI. Genomic DNA from the mother and father was extracted from tissue obtained from paraffin blocks. BslI cleaves the mutant allele to obtain a 108 bp fragment (arrowed left). Lane 1 contains an unaffected control and other lanes are as indicated in the family tree. The proband is arrowed. Journal of Investigative Dermatology 2000 114, 597-598DOI: (10.1046/j.1523-1747.2000.02002.x) Copyright © 2000 The Society for Investigative Dermatology, Inc Terms and Conditions