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

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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 1210-1213 (November 2002) DOI: 10.1046/j.1523-1747.2002.19528.x Copyright © 2002 The Society for Investigative Dermatology, Inc Terms and Conditions

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 2002 119, 1210-1213DOI: (10.1046/j.1523-1747.2002.19528.x) Copyright © 2002 The Society for Investigative Dermatology, Inc Terms and Conditions