ABCA12 Is the Major Harlequin Ichthyosis Gene

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ABCA12 Is the Major Harlequin Ichthyosis Gene Anna C. Thomas, Tom Cullup, Elizabeth E. Norgett, Tara Hill, Stephanie Barton, Beverly A. Dale, Eli Sprecher, Eamonn Sheridan, Aileen E. Taylor, Robert S. Wilroy, Celia DeLozier, Nigel Burrows, Helen Goodyear, Philip Fleckman, Karen G. Stephens, Lakshmi Mehta, Rosemarie M. Watson, Robert Graham, Roni Wolf, Anne Slavotinek, Madelena Martin, David Bourn, Charles A. Mein, Edel A. O'Toole, David P. Kelsell Journal of Investigative Dermatology Volume 126, Issue 11, Pages 2408-2413 (November 2006) DOI: 10.1038/sj.jid.5700455 Copyright © 2006 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 1 Sequencing and HPLC data from HI affected patients. (a) Sequences from three HI-affected patients along with normal controls. (b) Denaturing high-performance liquid chromatography traces of exon 24 showing patient 95 (homozygous G1179R), the mother of patient 95 (heterozygous), and a wild-type control. Journal of Investigative Dermatology 2006 126, 2408-2413DOI: (10.1038/sj.jid.5700455) Copyright © 2006 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 2 A schematic of the ABCA12 gene showing the location of HI mutations found. Our previously published mutations are shown in blue, whereas novel mutations are shown in black. Deletions and insertions are shown below the gene, whereas nonsense and missense mutations are shown above. Exons are shown in red. Journal of Investigative Dermatology 2006 126, 2408-2413DOI: (10.1038/sj.jid.5700455) Copyright © 2006 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 3 Details of heterozygous exon deletions. (a–c) Details of multiplex PCR from patient 50 and two controls along with (d) the Agilent oligo array data showing a reduction in copy number in exon 8 of patient 50, and (e) the presence of the known heterozygous G deletion in patient 96. (f) Deleted oligonucleotides are indicated by arrows. Pedigree of patient 50 with genotypes of exon 8 SNP (c.888 G>A (V296V)) and an intron 8 SNP marker (c.985+85 T>C). The genotypes clearly show non-maternal inheritance supportive of a maternal deletion spanning exon 8. Deleted SNPs are depicted as −. Journal of Investigative Dermatology 2006 126, 2408-2413DOI: (10.1038/sj.jid.5700455) Copyright © 2006 The Society for Investigative Dermatology, Inc Terms and Conditions