Novel SLC39A4 Mutations in Acrodermatitis Enteropathica

Slides:

Advertisements

Similar presentations

Epidermolysis Bullosa: Novel and De Novo Premature Termination Codon and Deletion Mutations in the Plectin Gene Predict Late-Onset Muscular Dystrophy

Advertisements

A Novel Mutation and Large Size Polymorphism Affecting the V2 Domain of Keratin 1 in an African-American Family with Severe, Diffuse Palmoplantar Keratoderma.

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

Transient Bullous Dermolysis of the Newborn Associated with Compound Heterozygosity for Recessive and Dominant COL7A1 Mutations Nadja Hammami-Hauasli,

Identification of a Novel Mutation and a De Novo Mutation in DKC1 in Two Chinese Pedigrees with Dyskeratosis Congenita Ying-guo Ding, Tie-shan Zhu, Wei.

The Molecular Basis of Malonyl-CoA Decarboxylase Deficiency

Molecular Basis of Kindler Syndrome in Italy: Novel and Recurrent Alu/Alu Recombination, Splice Site, Nonsense, and Frameshift Mutations in the KIND1.

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

A Missense Mutation in CDH3, Encoding P-Cadherin, Causes Hypotrichosis with Juvenile Macular Dystrophy Margarita Indelman, Reuven Bergman, Danny Petronius,

A Novel Alu-Like Element Rearranged in the Dystrophin Gene Causes a Splicing Mutation in a Family with X-Linked Dilated Cardiomyopathy Alessandra Ferlini,

Genomic Amplification of the Human Plakophilin 1 Gene and Detection of a New Mutation in Ectodermal Dysplasia/Skin Fragility Syndrome Neil V. Whittock,

Aoi Nakano, Hajime Nakano, Sal LaForgia, Leena Pulkkinen, Jouni Uitto

Anna M. G. Pasmooij, Hendri H. Pas, Franciska C. L

A Novel Keratin 5 Mutation (K5V186L) in a Family with EBS-K: a Conservative Substitution Can Lead to Development of Different Disease Phenotypes Mirjana.

Epidermolysis Bullosa: Novel and De Novo Premature Termination Codon and Deletion Mutations in the Plectin Gene Predict Late-Onset Muscular Dystrophy

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.

Anna M. G. Pasmooij, Hendri H. Pas, Franciska C. L

A Synonymous Mutation in the CFTR Gene Causes Aberrant Splicing in an Italian Patient Affected by a Mild Form of Cystic Fibrosis Valeria Faa′, Alessandra.

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

Novel Homozygous and Compound Heterozygous COL17A1 Mutations Associated with Junctional Epidermolysis Bullosa Michaela Floeth, Heike Schäcke, Nadja Hammami-Hauasli,

A Rare Case of Hypohidrotic Ectodermal Dysplasia Caused by Compound Heterozygous Mutations in the EDAR Gene Yutaka Shimomura, Nobuyuki Sato, Akinori.

Laminin-5 Mutational Analysis in an Italian Cohort of Patients with Junctional Epidermolysis Bullosa Patrizia Posteraro, Naomi De Luca, Guerrino Meneguzzi,

Semidominant Inheritance in Epidermolytic Ichthyosis

Laurent Gouya Journal of Investigative Dermatology

A Homozygous Nonsense Mutation in Type XVII Collagen Gene (COL17A1) Uncovers an Alternatively Spliced mRNA Accounting for an Unusually Mild Form of Non-Herlitz.

The Neurofibromatosis Type 1 (Nf1) Tumor Suppressor is a Modifier of Carcinogen- Induced Pigmentation and Papilloma Formation in C57BL/6 Mice Radhika.

Michaela Floeth, Leena Bruckner-Tuderman

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

Long-Range Polymerase Chain Reaction for Specific Full-Length Amplification of the Human Keratin 14 Gene and Novel Keratin 14 Mutations in Epidermolysis.

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

Compound Heterozygous TGM1 Mutations Including a Novel Missense Mutation L204Q in a Mild Form of Lamellar Ichthyosis Masashi Akiyama, Itsuro Matsuo

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

Feras M. Hantash, Arlene Rebuyon, Mei Peng, Joy B

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

Systematic Analysis of Molecular Defects in the Ferrochelatase Gene from Patients with Erythropoietic Protoporphyria U.B. Rüfenacht, L. Gouya, X. Schneider-Yin,

Maternal Transmission of the 3 bp Deletion within Exon 7 of the STS Gene in Steroid Sulfatase Deficiency Margarita Valdes-Flores Journal of Investigative.

Compound Heterozygosity for Non-Sense and Mis-Sense Mutations in Desmoplakin Underlies Skin Fragility/Woolly Hair Syndrome Neil V. Whittock, Hong Wan,

Compound Heterozygosity for a Recessive Glycine Substitution and a Splice Site Mutation in the COL7A1 Gene Causes an Unusually Mild Form of Localized.

Epidermolytic Hyperkeratosis and Epidermolysis Bullosa Simplex Caused by Frameshift Mutations Altering the V2 Tail Domains of Keratin 1 and Keratin 5

Homozygous Variegate Porphyria: Identification of Mutations on Both Alleles of the Protoporphyrinogen Oxidase Gene in a Severely Affected Proband Jorge.

Gabriella Esposito, Giuseppe Rescigno, Francesco Salvatore

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

A Usual Frameshift and Delayed Termination Codon Mutation in Keratin 5 Causes a Novel Type of Epidermolysis Bullosa Simplex with Migratory Circinate Erythema

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,

Molecular Heterogeneity of Epidermolysis Bullosa Simplex: Contribution of EXPH5 Mutations Manuela Pigors, Agnes Schwieger-Briel, Juna Leppert, Dimitra.

Jittima Dhitavat, Leonard Dode, Natalie Leslie, Anavaj Sakuntabhai

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

Genotype–Phenotype Correlation in Recessive Dystrophic Epidermolysis Bullosa: When Missense Doesn't Make Sense Vesarat Wessagowit, Soo-Chan Kim, Se Woong.

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.

Recurrent Mutations in Kindlin-1, a Novel Keratinocyte Focal Contact Protein, in the Autosomal Recessive Skin Fragility and Photosensitivity Disorder,

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,

Neil V. Whittock, Frances J. Smith, W.H. Irwin McLean

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

Identification of Skn-1n, a Splice Variant Induced by High Calcium Concentration and Specifically Expressed in Normal Human Keratinocytes Koji Nakajima,

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

Ellen Pfendner, Jouni Uitto Journal of Investigative Dermatology

Two Exon-Skipping Mutations as the Molecular Basis of Succinic Semialdehyde Dehydrogenase Deficiency (4-Hydroxybutyric Aciduria) Ken L. Chambliss, Debra.

Extracellular Matrix Protein 1 Gene (ECM1) Mutations in Lipoid Proteinosis and Genotype-Phenotype Correlation Takahiro Hamada, Vesarat Wessagowit, Andrew.

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

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:

Novel SLC39A4 Mutations in Acrodermatitis Enteropathica Aoi Nakano, Hajime Nakano, Yuka Toyomaki, Katsumi Hanada Journal of Investigative Dermatology Volume 120, Issue 6, Pages 963-966 (June 2003) DOI: 10.1046/j.1523-1747.2003.12243.x Copyright © 2003 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 1 Pedigrees of family 1 and family 2 with AE. The solid symbols () indicate maternal mutations and the dotted symbols () indicate paternal mutations in family 1. The diagonal stripe symbols () refer to mutations in family 2. The open symbols refer to clinically unaffected individuals. The parents of family 2 are related. Journal of Investigative Dermatology 2003 120, 963-966DOI: (10.1046/j.1523-1747.2003.12243.x) Copyright © 2003 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 2 Clinical and histopathologic findings of patient 1 (P-1) in family 1 at the initial examination. Erythema, erosions, blisters, and crusts are shown in perioral and perianal regions and acral sites of the feet (A–C). The biopsy specimen from right dorsal foot, square box in C, showed pale staining of corneal layer, spongiosis, and epidermal acantholytic blister (D). Scale bar: 50 μm; Hematoxylin and eosin stain, original magnification×100. Journal of Investigative Dermatology 2003 120, 963-966DOI: (10.1046/j.1523-1747.2003.12243.x) Copyright © 2003 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 3 Schematic illustration of the SLC39A4 polypeptide and positions of all SLC39A4 mutations disclosed thus far in AE patients. The mis-sense mutations are shown above the molecule, whereas the premature termination codon and the putative splice site mutation are shown below. The mutations disclosed in this study are shown in bold type. Four mutations with asterisk are not confirmed as a mutation. Journal of Investigative Dermatology 2003 120, 963-966DOI: (10.1046/j.1523-1747.2003.12243.x) Copyright © 2003 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 4 Identification of the SLC39A4 mutations. Two percent agarose gel electrophoresis of the PCR products spanning exon 6 showed double bands in the affected individuals and father in family 1 (P-1, P-2, and F) (A). Direct nucleotide sequencing of the PCR products spanning exon 6 revealed a heterozygous 1017ins53 in these individuals (B, middle panel). The 1017ins53 mutation, which is the duplication of 53 bp from the nucleotide position 1017, was verified by sequencing of the subcloned mutant band (B, top panel). Sequencing of the PCR products spanning exon 2 revealed a heterozygous 283 C→T, designated R95C, in the affected individuals and mother (P-1, P-2, and M) (C, upper panel). In family 2, the patient was homozygous for 909 G→C, designated Q303H (D, upper panel), whereas the parents were heterozygous for this mutation (D, middle panel). MW, molecular weight markers 100 bp DNA Ladder; M, mother; F, father; C, control. Journal of Investigative Dermatology 2003 120, 963-966DOI: (10.1046/j.1523-1747.2003.12243.x) Copyright © 2003 The Society for Investigative Dermatology, Inc Terms and Conditions