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Mutations in ABCA12 Underlie the Severe Congenital Skin Disease Harlequin Ichthyosis  P. David Kelsell, E. Elizabeth Norgett, Harriet Unsworth, Muy-Teck.

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Presentation on theme: "Mutations in ABCA12 Underlie the Severe Congenital Skin Disease Harlequin Ichthyosis  P. David Kelsell, E. Elizabeth Norgett, Harriet Unsworth, Muy-Teck."— Presentation transcript:

1 Mutations in ABCA12 Underlie the Severe Congenital Skin Disease Harlequin Ichthyosis 
P. David Kelsell, E. Elizabeth Norgett, Harriet Unsworth, Muy-Teck Teh, Thomas Cullup, Charles A. Mein, J. Patricia Dopping-Hepenstal, A. Beverly Dale, Gianluca Tadini, Philip Fleckman, G. Karen Stephens, P. Virginia Sybert, B. Susan Mallory, V. Bernard North, R. David Witt, Eli Sprecher, Aileen E. M. Taylor, Andrew Ilchyshyn, T. Cameron Kennedy, Helen Goodyear, Celia Moss, David Paige, I. John Harper, D. Bryan Young, M. Irene Leigh, A.J. Robin Eady, A. Edel O’Toole  The American Journal of Human Genetics  Volume 76, Issue 5, Pages (May 2005) DOI: /429844 Copyright © 2005 The American Society of Human Genetics Terms and Conditions

2 Figure 1 Typical clinical presentation of HI at birth
The American Journal of Human Genetics  , DOI: ( /429844) Copyright © 2005 The American Society of Human Genetics Terms and Conditions

3 Figure 2 Localization of the HI gene to chromosome 2q35 by use of SNP-array mapping. A, Homozygous SNP profiles of chromosome 2 in six patients with HI. Black bars indicate homozygous SNP call data. Blue bars indicate the minimal common region of homozygous SNPs in patients 1–5, a genetic distance of ∼1.5 Mb. B, Ideogram of chromosome 2 showing the position of ABCA12 (red bar), located within the minimal common region of homozygous SNPs (blue) identified in panel A. C, The genetic interval of the homozygous SNP “blocks” in each patient with HI, with clear indication that the ABCA12 gene maps within the common homozygous region for five of the six patients. The American Journal of Human Genetics  , DOI: ( /429844) Copyright © 2005 The American Society of Human Genetics Terms and Conditions

4 Figure 3 Analysis of microsatellite markers flanking the ABCA12 gene. A, Segregation of microsatellite markers flanking ABCA12 at chromosome 2q35 in a family with HI. Only affected individual 6 is homozygous at this region of chromosome 2. Note that the majority of siblings with HI are deceased. B, Haplotype analysis of individuals with HI. Microsatellite markers map around the ABCA12 gene locus (215, 621, 772–215, 828, 657) at chromosome 2q35. Several patients are homozygous for the markers D2S325 (208, 096, 142–208, 096, 490), D2S128 (214, 917, 811–214, 918, 065), D2S1345 (214, 991, 103–214, 991, 425), and D2S126 (221, 842, 419–221, 842, 782). The genome positions (Mb) for ABCA12 and microsatellite markers on chromosome 2 are shown in parentheses. The American Journal of Human Genetics  , DOI: ( /429844) Copyright © 2005 The American Society of Human Genetics Terms and Conditions

5 Figure 4 Mutation analysis of the ABCA12 gene in patients with HI. A, Table summarizing mutation analysis. An asterisk (*) indicates a sequence change to a stop codon. B, i, Chromatogram showing homozygous GC deletion in exon 42 of patient 7. ii, Chromatogram showing homozygous T→C substitution in exon 44 in patient iii, Chromatogram showing heterozygous A deletion in exon 33 of patient 44. The American Journal of Human Genetics  , DOI: ( /429844) Copyright © 2005 The American Society of Human Genetics Terms and Conditions

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