Refined Mapping of Naegeli–Franceschetti– Jadassohn Syndrome to a 6 cM Interval on Chromosome 17q11.2-q21 and Investigation of Candidate Genes Eli Sprecher,

Slides:

Advertisements

Similar presentations

Imprinting-Mutation Mechanisms in Prader-Willi Syndrome

Advertisements

Identification of a Novel Locus Associated with Congenital Recessive Ichthyosis on 12p11.2–q13 Mordechai Mizrachi-Koren, Dan Geiger, Margarita Indelman,

The H Syndrome Is Caused by Mutations in the Nucleoside Transporter hENT3 Vered Molho-Pessach, Israela Lerer, Dvorah Abeliovich, Ziad Agha, Abdulasalam.

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

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

Analysis of Keratin Polypeptides 8 and 19 Variants in Inflammatory Bowel Disease Guo–Zhong Tao, Pavel Strnad, Qin Zhou, Ahmad Kamal, Leilei Zhang, Nahid.

Deficiency of the ADP-Forming Succinyl-CoA Synthase Activity Is Associated with Encephalomyopathy and Mitochondrial DNA Depletion Orly Elpeleg, Chaya.

Use of Homozygosity Mapping to Identify a Region on Chromosome 1 Bearing a Defective Gene That Causes Autosomal Recessive Homozygous Hypercholesterolemia.

Fine Localization of the Nijmegen Breakage Syndrome Gene to 8q21: Evidence for a Common Founder Haplotype Karen M. Cerosaletti, Ethan Lange, Heather.

Genomewide Linkage Scan Identifies a Novel Susceptibility Locus for Restless Legs Syndrome on Chromosome 9p Shenghan Chen, William G. Ondo, Shaoqi Rao,

Mutations in the Keratin 85 (KRT85/hHb5) Gene Underlie Pure Hair and Nail Ectodermal Dysplasia Yutaka Shimomura, Muhammad Wajid, Mazen Kurban, Nobuyuki.

Cohen Syndrome Is Caused by Mutations in a Novel Gene, COH1, Encoding a Transmembrane Protein with a Presumed Role in Vesicle-Mediated Sorting and Intracellular.

A Defect in the TUSC3 Gene Is Associated with Autosomal Recessive Mental Retardation Masoud Garshasbi, Valeh Hadavi, Haleh Habibi, Kimia Kahrizi, Roxana.

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

Natural Gene Therapy May Occur in All Patients with Generalized Non-Herlitz Junctional Epidermolysis Bullosa with COL17A1 Mutations Anna M.G. Pasmooij,

Gail Billingsley, Sathiyavedu T. Santhiya, Andrew D

Progress in Molecular Genetics of Heritable Skin Diseases: The Paradigms of Epidermolysis Bullosa and Pseudoxanthoma Elasticum Jouni Uitto, Leena Pulkkinen,

Mutations in a Novel Gene with Transmembrane Domains Underlie Usher Syndrome Type 3 Tarja Joensuu, Riikka Hämäläinen, Bo Yuan, Cheryl Johnson, Saara.

A Gene Mutated in Nephronophthisis and Retinitis Pigmentosa Encodes a Novel Protein, Nephroretinin, Conserved in Evolution Edgar Otto, Julia Hoefele,

Myotonic Dystrophy Type 2: Human Founder Haplotype and Evolutionary Conservation of the Repeat Tract Christina L. Liquori, Yoshio Ikeda, Marcy Weatherspoon,

Size Polymorphisms in the Human Ultrahigh Sulfur Hair Keratin-Associated Protein 4, KAP4, Gene Family Naoyuki Kariya, Yutaka Shimomura, Masaaki Ito

Mutations in TRIOBP, Which Encodes a Putative Cytoskeletal-Organizing Protein, Are Associated with Nonsyndromic Recessive Deafness Saima Riazuddin, Shaheen.

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

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

Susana H. Kofman-Alfaro, Ana L. Jimenez Vaca, Sergio A

Volume 10, Issue 8, Pages (April 2000)

Volume 65, Issue 6, Pages (June 2004)

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,

Margarita Indelman, Reuven Bergman, Michal Ramon, Eli Sprecher

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,

Laurent Gouya Journal of Investigative Dermatology

Identification of COL7A1 Alternative Splicing Inserting 9 Amino Acid Residues Into the Fibronectin Type III Linker Domain Daisuke Sawamura, Maki Goto,

John D. Rioux, Valerie A. Stone, Mark J

A Nonsense Mutation in CRYBB1 Associated with Autosomal Dominant Cataract Linked to Human Chromosome 22q Donna S. Mackay, Olivera B. Boskovska, Harry.

The Gene for Naegeli–Franceschetti–Jadassohn Syndrome Maps to 17q21

Heterozygous Mutations in AAGAB Cause Type 1 Punctate Palmoplantar Keratoderma with Evidence for Increased Growth Factor Signaling Elizabeth Pöhler,

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

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

Assignment of the Gene for a New Hereditary Nail Disorder, Isolated Congenital Nail Dysplasia, to Chromosome 17p13 Alice Krebsová, Henning Hamm, Susanne.

Hal M. Hoffman, Fred A. Wright, David H. Broide, Alan A

Genetic studies into inherited and sporadic hemolytic uremic syndrome

Mapping of Charcot-Marie-Tooth Disease Type 1C to Chromosome 16p Identifies a Novel Locus for Demyelinating Neuropathies Valerie A. Street, Jeff D. Goldy,

Gail Billingsley, Sathiyavedu T. Santhiya, Andrew D

CC2D2A, Encoding A Coiled-Coil and C2 Domain Protein, Causes Autosomal- Recessive Mental Retardation with Retinitis Pigmentosa Abdul Noor, Christian Windpassinger,

Expanding The Phenotypic Spectrum of Cx26 Disorders: Bart–Pumphrey Syndrome is Caused by a Novel Missense Mutation in GJB2 Gabriele Richard, Nkecha Brown,

Sadaf Naz, Chantal M. Giguere, David C. Kohrman, Kristina L

A Mutation in the Variable Repeat Region of the Aggrecan Gene (AGC1) Causes a Form of Spondyloepiphyseal Dysplasia Associated with Severe, Premature.

Homozygosity and Linkage-Disequilibrium Mapping of the Syndrome of Congenital Hypoparathyroidism, Growth and Mental Retardation, and Dysmorphism to a.

Retinitis Pigmentosa and Progressive Sensorineural Hearing Loss Caused by a C12258A Mutation in the Mitochondrial MTTS2 Gene Fiona C. Mansergh, Sophia.

Maspardin Is Mutated in Mast Syndrome, a Complicated Form of Hereditary Spastic Paraplegia Associated with Dementia Michael A. Simpson, Harold Cross,

Characterization of New Members of the Human Type II Keratin Gene Family and a General Evaluation of the Keratin Gene Domain on Chromosome 12q13.13 Michael.

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

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,

A Defect in the TUSC3 Gene Is Associated with Autosomal Recessive Mental Retardation Masoud Garshasbi, Valeh Hadavi, Haleh Habibi, Kimia Kahrizi, Roxana.

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,

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

Normophosphatemic Familial Tumoral Calcinosis Is Caused by Deleterious Mutations in SAMD9, Encoding a TNF-α Responsive Protein Ilana Chefetz, Danny Ben.

Clouston Syndrome Can Mimic Pachyonychia Congenita

A Deleterious Mutation in SAMD9 Causes Normophosphatemic Familial Tumoral Calcinosis Orit Topaz, Margarita Indelman, Ilana Chefetz, Dan Geiger, Aryeh.

Mutations in the Gene Encoding Capillary Morphogenesis Protein 2 Cause Juvenile Hyaline Fibromatosis and Infantile Systemic Hyalinosis Sandra Hanks,

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

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.

Mutations in POFUT1, Encoding Protein O-fucosyltransferase 1, Cause Generalized Dowling-Degos Disease Ming Li, Ruhong Cheng, Jianying Liang, Heng Yan,

A New Familial Amyotrophic Lateral Sclerosis Locus on Chromosome 16q12

C. Denier, S. Goutagny, P. Labauge, V. Krivosic, M Arnoult, A

A Mutation in LIPN, Encoding Epidermal Lipase N, Causes a Late-Onset Form of Autosomal-Recessive Congenital Ichthyosis Shirli Israeli, Ziyad Khamaysi,

Cohen Syndrome Is Caused by Mutations in a Novel Gene, COH1, Encoding a Transmembrane Protein with a Presumed Role in Vesicle-Mediated Sorting and Intracellular.

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,

Presentation transcript:

Refined Mapping of Naegeli–Franceschetti– Jadassohn Syndrome to a 6 cM Interval on Chromosome 17q11.2-q21 and Investigation of Candidate Genes Eli Sprecher, Jouni Uitto, Gabriele Richard Journal of Investigative Dermatology Volume 119, Issue 3, Pages 692-698 (September 2002) DOI: 10.1046/j.1523-1747.2002.01855.x Copyright © 2002 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 1 Haplotype analysis of the NFJS family and the DPR family for polymorphic markers on chromosome 17q11.2-q21.(a) The NFJS family; (b) the DPR family. Filled symbols represent affected individuals. The common disease-associated haplotypes are shown in boxes, flanking markers are indicated in bold. Arrows mark critical recombination events defining the genetic interval. Journal of Investigative Dermatology 2002 119, 692-698DOI: (10.1046/j.1523-1747.2002.01855.x) Copyright © 2002 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 2 Clinical features of NFJS and DPR. (a-d, g) NFJS; (e, f) DPR. (a) Absence of dermatoglyphics on the index fingerpad; (b) reticulate and macular pigmentation over the right side of the neck; (c) punctate plantar keratoses and (d) focal palmar keratoderma in NFJS. (e) Macular facial hyperpigmentations and diffuse alopecia in a female with DPR (f) and dystrophia mediana canaliformis-like abnormality of the median fingernail in DPR. (g) Enamel defects and teeth malplacement in NFJS. Journal of Investigative Dermatology 2002 119, 692-698DOI: (10.1046/j.1523-1747.2002.01855.x) Copyright © 2002 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 3 Multipoint linkage map across the candidate region on 17q11.2-q21 for the NFJS family.Arrows indicate the position of the seven microsatellite markers selected for analysis. Journal of Investigative Dermatology 2002 119, 692-698DOI: (10.1046/j.1523-1747.2002.01855.x) Copyright © 2002 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 4 Genetic and physical chromosomal maps of the NFJS critical interval.Upper panel, genetic; lower panel, physical. The relative position of selected polymorphic markers and genes is shown according to the Genethon genetic map or the UDB integrated map (upper panel) as well as their location on the NCBI contig for chromosome 17 (lower panel). Sequencing data are not yet available for the boxed regions. The gray bars indicate the critical disease gene intervals in both NFJS and DPR families. Journal of Investigative Dermatology 2002 119, 692-698DOI: (10.1046/j.1523-1747.2002.01855.x) Copyright © 2002 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 5 Structure and expression pattern of KRT24 (FLJ20261) on 17q11.2.(a) Exon-intron organization. (b) Amino acid sequence alignment of several type I keratins with KRT24. Conserved amino acids are shown in boxes. The numbers on the left indicate respective amino acid positions. Note the high degree of sequence similarity between the novel gene and KRT10, especially across the central a-helical rod domain. E1-E2: end domains; V1-V2: variable head and tail domain; 1A-1B-2A-2B: parts of the central helical rod domain; L1-L1/2-L2: non-helical linker regions. (c) Tissue-specific transcription. Intron-crossing primers for KRT24 and GAPDH (control) were used to amplify cDNA obtained from various tissues. Specific expression of KRT24 was observed in keratinocytes, colon, spleen, thymus, testis, and placenta. Positive controls consisted in control cDNA (Clontech) amplified for GAPDH; negative controls were PCR amplified without cDNA. Journal of Investigative Dermatology 2002 119, 692-698DOI: (10.1046/j.1523-1747.2002.01855.x) Copyright © 2002 The Society for Investigative Dermatology, Inc Terms and Conditions