A new genetic isolate of acrodermatitis enteropathica with a novel mutation
Y. Anikster
Metabolic Disease Unit, Safra Children’s Hospital, Sheba Medical Center, Tel Hashomer, Ramat Gan 52621, Israel
The Mina and Everard Goodman Faculty of Life Sciences, Bar-Ilan University, Ramat-Gan, Israel
Search for more papers by this authorM. Shohat
Recanati Institute, Medical Genetics and Pediatrics, Rabin and Schneider Medical Centers, Petach Tiqva, Israel
Search for more papers by this authorJ. Abu-Much
Pediatric Ambulatory Health Services, Clalit HMO, Gisser-Al-Zarka, Israel
Search for more papers by this authorS. Eisenkraft
Dermatology Clinic, Herzeliya Medical Center, Haifa, Israel
Search for more papers by this authorB. Sredni
The Mina and Everard Goodman Faculty of Life Sciences, Bar-Ilan University, Ramat-Gan, Israel
Search for more papers by this authorU. Nir
The Mina and Everard Goodman Faculty of Life Sciences, Bar-Ilan University, Ramat-Gan, Israel
Search for more papers by this authorY. Anikster
Metabolic Disease Unit, Safra Children’s Hospital, Sheba Medical Center, Tel Hashomer, Ramat Gan 52621, Israel
The Mina and Everard Goodman Faculty of Life Sciences, Bar-Ilan University, Ramat-Gan, Israel
Search for more papers by this authorM. Shohat
Recanati Institute, Medical Genetics and Pediatrics, Rabin and Schneider Medical Centers, Petach Tiqva, Israel
Search for more papers by this authorJ. Abu-Much
Pediatric Ambulatory Health Services, Clalit HMO, Gisser-Al-Zarka, Israel
Search for more papers by this authorS. Eisenkraft
Dermatology Clinic, Herzeliya Medical Center, Haifa, Israel
Search for more papers by this authorB. Sredni
The Mina and Everard Goodman Faculty of Life Sciences, Bar-Ilan University, Ramat-Gan, Israel
Search for more papers by this authorU. Nir
The Mina and Everard Goodman Faculty of Life Sciences, Bar-Ilan University, Ramat-Gan, Israel
Search for more papers by this authorThis study is part of the PhD thesis of Y.A. at the Bar-Ilan University, Israel.
Conflicts of interest: none declared.
References
- 1 Wang K, Pugh EW, Griffen S et al. Homozygosity mapping places the acrodermatitis enteropathica gene on chromosomal region 8q24.3. Am J Hum Genet 2001; 68: 1055–60.
- 2 Kury S, Dreno B, Bezieau S et al. Identification of SLC39A4, a gene involved in acrodermatitis enteropathica. Nat Genet 2002; 31: 239–40.
- 3 Wang K, Zhou B, Kuo YM et al. A novel member of a zinc transporter family is defective in acrodermatitis enteropathica. Am J Hum Genet 2000; 71: 66–73.
- 4 Wang F, Kim BE, Dufner-Beattie J et al. Acrodermatitis enteropathica mutations affect transport activity, localization and zinc-responsive trafficking of the mouse ZIP4 zinc transporter. Hum Mol Genet 2004; 13: 563–71.
- 5 Kury S, Kharfi M, Kamoun R et al. Mutation spectrum of human SLC39A4 in a panel of patients with acrodermatitis enteropathica. Hum Mutat 2003; 22: 337–8.
- 6 Nakano A, Nakano H, Nomura K et al. Novel SLC39A4 mutations in acrodermatitis enteropathica. J Invest Dermatol 2003; 120: 963–6.
- 7 Neldner KH. Acrodermatitis enteropathica and other zinc-deficiency disorders. In: Fitzpatrick’s Dermatology in General Medicine ( IM Freedberg, AZ Eisen, K Wolff, KF Austen, LA Goldsmith, SI Katz, eds) 6th edn. New York: McGraw-Hill, 2003; 1412–18.
- 8 Dufner-Beattie J, Wang F, Kuo YM et al. The acrodermatitis enteropathica gene ZIP4 encodes a tissue-specific, zinc-regulated zinc transporter in mice. J Biol Chem 2003; 278: 33474–81.
- 9 Cragg RA, Phillips SR, Piper JM et al. Homeostatic regulation of zinc transporters in the human small intestine by dietary zinc supplementation. Gut 2005; 54: 469–78.
- 10 Maverakis E, Fung MA, Lynch PJ et al. Acrodermatitis enteropathica and an overview of zinc metabolism. J Am Acad Dermatol 2007; 56: 116–24.
