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

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

1 Identification of a Novel Locus Associated with Congenital Recessive Ichthyosis on 12p11.2–q13 
Mordechai Mizrachi-Koren, Dan Geiger, Margarita Indelman, Ora Bitterman-Deutsch, Reuven Bergman, Eli Sprecher  Journal of Investigative Dermatology  Volume 125, Issue 3, Pages (September 2005) DOI: /j X x Copyright © 2005 The Society for Investigative Dermatology, Inc Terms and Conditions

2 Figure 1 Clinical features. (a) Large lamellar scales over the left thigh of patient 64. (b) Thickening of the palmar skin in patient 63. (c) Fine whitish scales cover the skin of patient 93. Journal of Investigative Dermatology  , DOI: ( /j X x) Copyright © 2005 The Society for Investigative Dermatology, Inc Terms and Conditions

3 Figure 2 Multipoint linkage map across the candidate region on 12p11.2–q13 for the two congenital recessive ichthyoses (CRI) families. Maximal combined lode score is obtained for marker CH12SSR13. Journal of Investigative Dermatology  , DOI: ( /j X x) Copyright © 2005 The Society for Investigative Dermatology, Inc Terms and Conditions

4 Figure 3 Haplotype analysis of the two congenital recessive ichthyoses families for polymorphic markers on chromosome 12p11.2–q13. Filled symbols represent affected individuals. The disease-associated haplotypes are marked in gray. Journal of Investigative Dermatology  , DOI: ( /j X x) Copyright © 2005 The Society for Investigative Dermatology, Inc Terms and Conditions

5 Figure 4 Chromosomal map of the new congenital recessive ichthyoses locus. The relative position of selected polymorphic markers and genes is shown according to Mapviewer. Distances in centiMorgan indicate distance from markers to the telomeric end of the chromosome p-arm. The disease interval defined by haplotype analysis is marked in red. Journal of Investigative Dermatology  , DOI: ( /j X x) Copyright © 2005 The Society for Investigative Dermatology, Inc Terms and Conditions

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