Presentation is loading. Please wait.

Presentation is loading. Please wait.

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

Published byMiranda Beasley Modified over 5 years ago

Similar presentations

Presentation on theme: "A Missense Mutation in CDH3, Encoding P-Cadherin, Causes Hypotrichosis with Juvenile Macular Dystrophy  Margarita Indelman, Reuven Bergman, Danny Petronius,"— Presentation transcript:

1 A Missense Mutation in CDH3, Encoding P-Cadherin, Causes Hypotrichosis with Juvenile Macular Dystrophy  Margarita Indelman, Reuven Bergman, Danny Petronius, Dan Ciubutaro, Eli Sprecher, M.D., Ph.D.  Journal of Investigative Dermatology  Volume 119, Issue 5, Pages (November 2002) DOI: /j x Copyright © 2002 The Society for Investigative Dermatology, Inc Terms and Conditions

2 Figure 1 Clinical features and mutational analysis in an HJMD family. (a) Hypotrichosis in HJMD. Note the sparse and short scalp hair of an affected 13-y-old patient. (b) Fundus examination in an HJMD patient. Note the marked pigmentary degenerative changes over the retinal macula. (c) Hair scanning electron microscopy examination. Periodic angulations are seen along a hair shaft (original magnification 70×). A 180° twist of the hair shaft about its axis is seen in insert (original magnification 500×), characteristic of pili torti. (d) DNA sequence analysis. A G→A transition at CDH3 cDNA position 1508 is carried in a homozygous state by a patient (left panel) and in a heterozygous state by his father (middle panel). A healthy sib shows a wildtype sequence (right panel). (e) PCR-RFLP confirmation of the R503H mutation and pedigree of the HJMD family. Squares indicate male individuals and circles indicate female individuals. Black symbols represent affected individuals. To verify R503H, a 223 bp PCR fragment was amplified from family members’ DNAs and digested with DNA endonuclease BsiEI. R503H abolishes a recognition site for BsiEI. Thus affected individuals only display a 223 bp fragment, whereas healthy homozygous individuals display a 146 bp fragment (a 77 bp fragment is not visible). Accordingly, carriers of the mutation display both a 146 bp and a 223 bp fragment. (f) Protein alignment. The R503 residue is conserved across species and cadherin subtypes and is part of a consensus sequence (DRE) involved in Ca2+ binding (Troyanovsky, 1999). Journal of Investigative Dermatology  , DOI: ( /j x) Copyright © 2002 The Society for Investigative Dermatology, Inc Terms and Conditions

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

Similar presentations

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

Identification of a Novel Locus Associated with Congenital Recessive Ichthyosis on 12p11.2–q13  Mordechai Mizrachi-Koren, Dan Geiger, Margarita Indelman,
Epidermolysis Bullosa: Novel and De Novo Premature Termination Codon and Deletion Mutations in the Plectin Gene Predict Late-Onset Muscular Dystrophy 

Epidermolysis Bullosa: Novel and De Novo Premature Termination Codon and Deletion Mutations in the Plectin Gene Predict Late-Onset Muscular Dystrophy 
Retinitis Pigmentosa, Cutis Laxa, and Pseudoxanthoma Elasticum–Like Skin Manifestations Associated with GGCX Mutations  Ariana Kariminejad, Bita Bozorgmehr,

Retinitis Pigmentosa, Cutis Laxa, and Pseudoxanthoma Elasticum–Like Skin Manifestations Associated with GGCX Mutations  Ariana Kariminejad, Bita Bozorgmehr,
STEVE S. SOMMER, M.D., Ph.D.  Mayo Clinic Proceedings 

STEVE S. SOMMER, M.D., Ph.D.  Mayo Clinic Proceedings 
DSG2 Mutations Contribute to Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy  Mark M. Awad, Darshan Dalal, Eunpi Cho, Nuria Amat-Alarcon, Cynthia.

DSG2 Mutations Contribute to Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy  Mark M. Awad, Darshan Dalal, Eunpi Cho, Nuria Amat-Alarcon, Cynthia.
Familial Pityriasis Rubra Pilaris Is Caused by Mutations in CARD14

Familial Pityriasis Rubra Pilaris Is Caused by Mutations in CARD14
Mutations in the Transcription Factor Gene SOX18 Underlie Recessive and Dominant Forms of Hypotrichosis-Lymphedema-Telangiectasia  Alexandre Irrthum,

Mutations in the Transcription Factor Gene SOX18 Underlie Recessive and Dominant Forms of Hypotrichosis-Lymphedema-Telangiectasia  Alexandre Irrthum,
Herlitz Junctional Epidermolysis Bullosa: Novel and Recurrent Mutations in the LAMB3 Gene and the Population Carrier Frequency  Aoi Nakano, Ellen Pfendner,

Herlitz Junctional Epidermolysis Bullosa: Novel and Recurrent Mutations in the LAMB3 Gene and the Population Carrier Frequency  Aoi Nakano, Ellen Pfendner,
Volume 63, Issue 1, Pages (January 2003)

Volume 63, Issue 1, Pages (January 2003)
Abraham Zlotogorski  Journal of Investigative Dermatology 

Abraham Zlotogorski  Journal of Investigative Dermatology 
Olmsted Syndrome Caused by a Homozygous Recessive Mutation in TRPV3

Olmsted Syndrome Caused by a Homozygous Recessive Mutation in TRPV3
Combination of a Novel Frameshift Mutation (1929delCA) and a Recurrent Nonsense Mutation (W610X) of the LAMB3 Gene in a Japanese Patient with Herlitz.

Combination of a Novel Frameshift Mutation (1929delCA) and a Recurrent Nonsense Mutation (W610X) of the LAMB3 Gene in a Japanese Patient with Herlitz.
A Comparative Study of Fibrous Dysplasia and Osteofibrous Dysplasia with Regard to GSα Mutation at the Arg201 Codon  Akio Sakamoto, Yoshinao Oda, Yukihide.

A Comparative Study of Fibrous Dysplasia and Osteofibrous Dysplasia with Regard to GSα Mutation at the Arg201 Codon  Akio Sakamoto, Yoshinao Oda, Yukihide.
Aoi Nakano, Hajime Nakano, Sal LaForgia, Leena Pulkkinen, Jouni Uitto 

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,

Natural Gene Therapy May Occur in All Patients with Generalized Non-Herlitz Junctional Epidermolysis Bullosa with COL17A1 Mutations  Anna M.G. Pasmooij,
Volume 54, Issue 3, Pages (September 1998)

Volume 54, Issue 3, Pages (September 1998)
Olmsted Syndrome Caused by a Homozygous Recessive Mutation in TRPV3

Olmsted Syndrome Caused by a Homozygous Recessive Mutation in TRPV3
Epidermolysis Bullosa: Novel and De Novo Premature Termination Codon and Deletion Mutations in the Plectin Gene Predict Late-Onset Muscular Dystrophy 

Epidermolysis Bullosa: Novel and De Novo Premature Termination Codon and Deletion Mutations in the Plectin Gene Predict Late-Onset Muscular Dystrophy 
Mutations in ABCB6 Cause Dyschromatosis Universalis Hereditaria

Mutations in ABCB6 Cause Dyschromatosis Universalis Hereditaria
A Missense Mutation within the Helix Initiation Motif of the Keratin K71 Gene Underlies Autosomal Dominant Woolly Hair/Hypotrichosis  Atsushi Fujimoto,

A Missense Mutation within the Helix Initiation Motif of the Keratin K71 Gene Underlies Autosomal Dominant Woolly Hair/Hypotrichosis  Atsushi Fujimoto,

Similar presentations

Ads by Google