Margarita Indelman, Reuven Bergman, Michal Ramon, Eli Sprecher

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Presentation transcript:

Phenotypic Diversity and Mutation Spectrum in Hypotrichosis with Juvenile Macular Dystrophy Margarita Indelman, Reuven Bergman, Michal Ramon, Eli Sprecher Journal of Investigative Dermatology Volume 121, Issue 5, Pages 1217-1220 (November 2003) DOI: 10.1046/j.1523-1747.2003.12550_1.x Copyright © 2003 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 1 A feature analysis of HJMD family. (a) Curly and short hair as well as numerous lentigines on both sides of the nose and on the cheeks are present in affected individual 5–7 of family 5. (b) Mutation analysis. Analysis of the CDH3 coding sequence revealed an heterozygous non-sense mutation in exon 5 (L168X) and an heterozygous deletion in exon 14 (2112delG) in family 1 patient; an homozygous 462delT mutation in exon 5 in family 2 patient; an homozygous 829delG mutation in exon 7 in family 3 patient (left panels). The right panels give the corresponding wild-type sequences. (c) Segregation of R503H in family 4 and family 5 demonstrated by polymerase chain reaction–restriction fragment length polymorphism. Exon 11 was polymerase chain reaction-amplified from each member of the two families. A 223 bp long polymerase chain reaction fragment was digested with BsiEI. R503H abolishes a recognition site for BsiEI: thus affected individuals display a 223 bp fragment, healthy homozygous individuals display a 146 bp fragment and carriers of the mutation display both fragments. The lower band of 77 bp is not shown. (d) Haplotype analysis in three HJMD families. Family 6 has previously been characterized (Indelman et al, 2002). All family members were genotyped using seven microsatellite markers encompassing the CDH3 gene. Journal of Investigative Dermatology 2003 121, 1217-1220DOI: (10.1046/j.1523-1747.2003.12550_1.x) Copyright © 2003 The Society for Investigative Dermatology, Inc Terms and Conditions