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01-05-2010 | Short Communication

One novel homozygous mutation of SLC39A4 gene in a Chinese patient with acrodermatitis enteropathica

Authors: Cheng-Rang Li, Shu-Mei Yan, Dan-Bei Shen, Qi Li, Jin-Ping Shao, Cheng-Yi Xue, Yuan-Hua Cao

Published in: Archives of Dermatological Research | Issue 4/2010

Abstract

Acrodermatitis enteropathica, a rare autosomal recessive disease, manifests as periorificial and symmetrical acral dermatitis, alopecia, and diarrhea due to insufficient zinc uptake by the intestine. Recent research revealed that mutations in the SLC39A4 gene are responsible for acrodermatitis enteropathica. This gene encodes one member of a human zinc transporter-like protein, also known as ZIP4. We detected one novel homozygous mutation c.1115T > G in the human SLC39A4 gene in one Chinese patient, which leading to p.L372R of the ZIP4. Homology analysis shows Leu372 in ZIP4 is conserved in Eutheria.

Kury S, Dreno B, Bezieau S, Giraudet S, Kharfi M, Kamoun R, Moisan JP (2002) Identification of SLC39A4, a gene involved in acrodermatitis enteropathica. Nat Genet 31:239–240CrossRefPubMed

Maverakis E, Fung MA, Lynch PJ, Draznin M, Michael DJ, Ruben B, Fazel N (2007) Acrodermatitis enteropathica and an overview of zinc metabolism. J Am Acad Dermatol 56:116–124CrossRefPubMed

Moynahan EJ (1974) Letter: Acrodermatitis enteropathica: a lethal inherited human zinc-deficiency disorder. Lancet 2:399–400CrossRefPubMed

Nakano A, Nakano H, Nomura K, Toyomaki Y, Hanada K (2003) Novel SLC39A4 mutations in acrodermatitis enteropathica. J Invest Dermatol 120:963–966CrossRefPubMed

Portnoy B, Molokhia M (1974) Acrodermatitis enteropathica treated by zinc. Br J Dermatol 91:701–703CrossRefPubMed

Schmitt S, Kury S, Giraud M, Dreno B, Kharfi M, Bezieau S (2009) An update on mutations of the SLC39A4 gene in acrodermatitis enteropathica. Hum Mutat 30:926–933CrossRefPubMed

Wang K, Pugh EW, Griffen S, Doheny KF, Mostafa WZ, al-Aboosi MM, el-Shanti H, Gitschier J (2001) Homozygosity mapping places the acrodermatitis enteropathica gene on chromosomal region 8q24.3. Am J Hum Genet 68:1055–1060CrossRefPubMed

Wang K, Zhou B, Kuo YM, Zemansky J, Gitschier J (2002) A novel member of a zinc transporter family is defective in acrodermatitis enteropathica. Am J Hum Genet 71:66–73CrossRefPubMed

Title: One novel homozygous mutation of SLC39A4 gene in a Chinese patient with acrodermatitis enteropathica
Authors: Cheng-Rang Li
Shu-Mei Yan
Dan-Bei Shen
Qi Li
Jin-Ping Shao
Cheng-Yi Xue
Yuan-Hua Cao
Publication date: 01-05-2010
Publisher: Springer-Verlag
Published in: Archives of Dermatological Research / Issue 4/2010
Print ISSN: 0340-3696
Electronic ISSN: 1432-069X
DOI: https://doi.org/10.1007/s00403-010-1047-2

At a glance: The STEP trials

Springer Medicine

One novel homozygous mutation of SLC39A4 gene in a Chinese patient with acrodermatitis enteropathica

Abstract

At a glance: The STEP trials

Springer Medicine

Abstract

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