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Volume 2012 (2012), Article ID 649090, 6 pages
A Novel ABCA12 Mutation in Two Families with Congenital Ichthyosis
1Centre for Rare Diseases and Personalised Medicine, University of Birmingham, Edgbaston, Birmingham B15 2TT, UK
2Centre for Human Genetics, Sindh Institute of Urology and Transplantation, Karachi 74200, Pakistan
3Division of Genetics and Molecular Medicine, King's College London School of Medicine, Guy's Hospital, London, UK
4University of Health Sciences, Lahore, Pakistan
5West Midlands Regional Genetics Service, Birmingham Women's Hospital, Edgbaston, Birmingham B15 2TT, UK
Received 24 October 2012; Accepted 19 November 2012
Academic Editors: G. Lesinski and S. Zolotukhin
Copyright © 2012 D. M. Walsh et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
- J. Fischer, “Autosomal recessive congenital ichthyosis,” The Journal of Investigative Dermatology, vol. 129, no. 6, pp. 1319–1321, 2009.
- A. Krebsová, W. Küster, G. G. Lestringant et al., “Identification, by homozygosity mapping, of a novel locus for autosomal recessive congenital ichthyosis on chromosome 17p, and evidence for further genetic heterogeneity,” American Journal of Human Genetics, vol. 69, no. 1, pp. 216–222, 2001.
- L. Rodríguez-Pazos, M. Ginarte, L. Fachal, J. Toribio, A. Carracedo, and A. Vega, “Analysis of TGM1, ALOX12B, ALOXE3, NIPAL4 and CYP4F22 in autosomal recessive congenital ichthyosis from Galicia (NW Spain): evidence of founder effects,” The British Journal of Dermatology, vol. 165, no. 4, pp. 906–911, 2011.
- A. Hovnanian, “Harlequin ichthyosis unmasked: a defect of lipid transport,” Journal of Clinical Investigation, vol. 115, no. 7, pp. 1708–1710, 2005.
- A. C. Thomas, T. Cullup, E. E. Norgett et al., “ABCA12 is the major harlequin ichthyosis gene,” Journal of Investigative Dermatology, vol. 126, no. 11, pp. 2408–2413, 2006.
- M. Akiyama, “ABCA12 mutations and autosomal recessive congenital ichthyosis: a review of genotype/phenotype correlations and of pathogenetic concepts,” Human mutation, vol. 31, no. 10, pp. 1090–1096, 2010.
- M. Akiyama, “The pathogenesis of severe congenital ichthyosis of the neonate,” Journal of Dermatological Science, vol. 21, no. 2, pp. 96–104, 1999.
- M. Akiyama, “Pathomechanisms of harlequin ichthyosis and ABCA transporters in human diseases,” Archives of Dermatology, vol. 142, no. 7, pp. 914–918, 2006.
- P. Ostergaard, M. A. Simpson, F. C. Connell et al., “Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome),” Nature Genetics, vol. 43, no. 10, pp. 929–931, 2011.
- T. Strom, “ExonPrimer,” Institute of Human Genetics, http://ihg.gsf.de/ihg/ExonPrimer.html.
- M. Akiyama, Y. Sugiyama-Nakagiri, K. Sakai et al., “Mutations in lipid transporter ABCA12 in harlequin ichthyosis and functional recovery by corrective gene transfer,” Journal of Clinical Investigation, vol. 115, no. 7, pp. 1777–1784, 2005.
- C. Lefévre, S. Audebert, F. Jobard et al., “Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2,” Human Molecular Genetics, vol. 12, no. 18, pp. 2369–2378, 2003.
- T. Annilo, S. Shulenin, Z. Q. Chen et al., “Identification and characterization of a novel ABCA subfamily member, ABCA12, located in the lamellar ichthyosis region on 2q34,” Cytogenetic and Genome Research, vol. 98, no. 2-3, pp. 169–176, 2002.
- M. Akiyama, K. Sakai, Y. Sugiyama-Nakagiri et al., “Compound heterozygous mutations including a de novo missense mutation in ABCA12 led to a case of harlequin ichthyosis with moderate clinical severity,” Journal of Investigative Dermatology, vol. 126, no. 7, pp. 1518–1523, 2006.
- M. Akiyama and K. Sakai, “Mutation Database Mutations of the ATP-binding Cassette Transporter A 12 (ABCA12) associated with harlequin ichthyosis, congenital ichthyosiform erythroderma and lamellar ichthyosis,” http://www.med.nagoya-u.ac.jp/derma/ABCA12/index.html, 2012.
- D. P. Kelsell, E. E. Norgett, H. Unsworth et al., “Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis,” American Journal of Human Genetics, vol. 76, no. 5, pp. 794–803, 2005.