Journal of the American Academy of Dermatology
Volume 58, Issue 4 , Pages 653-656 , April 2008

DNA-based prenatal exclusion of harlequin ichthyosis

  • Teruki Yanagi, MD

      Affiliations

    • Department of Dermatology, Hokkaido University Graduate School of Medicine, Sapporo, Japan
    • Corresponding Author InformationReprint requests: Teruki Yanagi, MD, Department of Dermatology, Hokkaido University Graduate School of Medicine, N15 W7, Kita-ku, Sapporo 060-8638, Japan.
    • ,
  • Masashi Akiyama, MD, PhD

      Affiliations

    • Department of Dermatology, Hokkaido University Graduate School of Medicine, Sapporo, Japan
    • ,
  • Kaori Sakai, MS

      Affiliations

    • Department of Dermatology, Hokkaido University Graduate School of Medicine, Sapporo, Japan
    • ,
  • Akari Nagasaki

      Affiliations

    • Department of Dermatology, Hokkaido University Graduate School of Medicine, Sapporo, Japan
    • ,
  • Nobuaki Ozawa, MD

      Affiliations

    • Department of Perinatal Medicine and Maternal Care, National Center for Child Health and Development, Tokyo, Japan
    • ,
  • Rika Kosaki, MD

      Affiliations

    • Department of Clinical Genetics and Molecular Medicine, National Center for Child Health and Development, Tokyo, Japan
    • ,
  • Haruhiko Sago, MD

      Affiliations

    • Department of Perinatal Medicine and Maternal Care, National Center for Child Health and Development, Tokyo, Japan
    • ,
  • Hiroshi Shimizu, MD, PhD

      Affiliations

    • Department of Dermatology, Hokkaido University Graduate School of Medicine, Sapporo, Japan

References 

  1. Akiyama M. Pathomechanisms of harlequin ichthyosis and ABCA transporters in human diseases. Arch Dermatol. 2006;142:914–918
  2. Blanchet-Bardon C, Dumez Y, Labbe F, Lutzner MA, Puissant A, Henrion R, et al. Prenatal diagnosis of Harlequin fetus. Lancet. 1983;1:132
  3. Suzumori K, Kanzaki T. Prenatal diagnosis of harlequin ichthyosis by fetal skin biopsy; report of two cases. Prenat Diagn. 1991;11:451–457
  4. Akiyama M, Sugiyama-Nakagiri Y, Sakai K, McMillan JR, Goto M, Arita K, et al. Mutations in lipid transporter ABCA12 in harlequin ichthyosis and functional recovery by corrective gene transfer. J Clin Invest. 2005;115:1777–1784
  5. Kelsell DP, Norgett EE, Unsworth H, Teh MT, Cullup T, Mein CA, et al. Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis. Am J Hum Genet. 2005;76:794–803
  6. Annilo T, Shulenin S, Chen ZQ, Arnould I, Prades C, Lemoine C, et al. Identification and characterization of a novel ABCA subfamily member, ABCA12, located in the lamellar ichthyosis region on 2q34. Cytogenet Genome Res. 2002;98:169–176
  7. Akiyama M, Titeux M, Sakai K, McMillan JR, Tonasso L, Calvas P, et al. DNA-based prenatal diagnosis of harlequin ichthyosis and characterization of ABCA12 mutation consequences. J Invest Dermatol. 2007;127:568–573
  8. Lefevre C, Audebert S, Jobard F, Bouadjar B, Lankhdar H, Boughdene-Stambouli O, et al. Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2. Hum Mol Genet. 2003;12:2369–2378
  9. Akiyama M, Sakai K, Wolff G, Hausser I, McMillan JR, Sawamura D, et al. A novel ABCA12 mutation 3270delT causes harlequin ichthyosis. Br J Dermatol. 2006;5:1064–1066
  10. Akiyama M, Sakai K, Sugiyama-Nakagiri Y, Yamanaka Y, McMillan JR, Sawamura D, et al. Compound heterozygous mutations including a de novo missense mutation in ABCA12 led to a case of harlequin ichthyosis with moderate clinical severity. J Invest Dermatol. 2006;126:1518–1523

 Supported in part by grants-in-aid from the Ministry of Education, Science, Sports, and Culture of Japan to M. Akiyama (Kiban B. 16390312 and Kiban B. 18390310).

 Conflicts of interest: None declared.

PII: S0190-9622(07)02537-6

doi: 10.1016/j.jaad.2007.12.018

Journal of the American Academy of Dermatology
Volume 58, Issue 4 , Pages 653-656 , April 2008

Article Tools

* Image Usage & Resolution