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Novel SLC39A4 Mutations in Acrodermatitis Enteropathica

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Presentation on theme: "Novel SLC39A4 Mutations in Acrodermatitis Enteropathica"— Presentation transcript:

1 Novel SLC39A4 Mutations in Acrodermatitis Enteropathica
Aoi Nakano, Hajime Nakano, Yuka Toyomaki, Katsumi Hanada  Journal of Investigative Dermatology  Volume 120, Issue 6, Pages (June 2003) DOI: /j x Copyright © 2003 The Society for Investigative Dermatology, Inc Terms and Conditions

2 Figure 1 Pedigrees of family 1 and family 2 with AE. The solid symbols () indicate maternal mutations and the dotted symbols () indicate paternal mutations in family 1. The diagonal stripe symbols () refer to mutations in family 2. The open symbols refer to clinically unaffected individuals. The parents of family 2 are related. Journal of Investigative Dermatology  , DOI: ( /j x) Copyright © 2003 The Society for Investigative Dermatology, Inc Terms and Conditions

3 Figure 2 Clinical and histopathologic findings of patient 1 (P-1) in family 1 at the initial examination. Erythema, erosions, blisters, and crusts are shown in perioral and perianal regions and acral sites of the feet (A–C). The biopsy specimen from right dorsal foot, square box in C, showed pale staining of corneal layer, spongiosis, and epidermal acantholytic blister (D). Scale bar: 50 μm; Hematoxylin and eosin stain, original magnification×100. Journal of Investigative Dermatology  , DOI: ( /j x) Copyright © 2003 The Society for Investigative Dermatology, Inc Terms and Conditions

4 Figure 3 Schematic illustration of the SLC39A4 polypeptide and positions of all SLC39A4 mutations disclosed thus far in AE patients. The mis-sense mutations are shown above the molecule, whereas the premature termination codon and the putative splice site mutation are shown below. The mutations disclosed in this study are shown in bold type. Four mutations with asterisk are not confirmed as a mutation. Journal of Investigative Dermatology  , DOI: ( /j x) Copyright © 2003 The Society for Investigative Dermatology, Inc Terms and Conditions

5 Figure 4 Identification of the SLC39A4 mutations. Two percent agarose gel electrophoresis of the PCR products spanning exon 6 showed double bands in the affected individuals and father in family 1 (P-1, P-2, and F) (A). Direct nucleotide sequencing of the PCR products spanning exon 6 revealed a heterozygous 1017ins53 in these individuals (B, middle panel). The 1017ins53 mutation, which is the duplication of 53 bp from the nucleotide position 1017, was verified by sequencing of the subcloned mutant band (B, top panel). Sequencing of the PCR products spanning exon 2 revealed a heterozygous 283 C→T, designated R95C, in the affected individuals and mother (P-1, P-2, and M) (C, upper panel). In family 2, the patient was homozygous for 909 G→C, designated Q303H (D, upper panel), whereas the parents were heterozygous for this mutation (D, middle panel). MW, molecular weight markers 100 bp DNA Ladder; M, mother; F, father; C, control. Journal of Investigative Dermatology  , DOI: ( /j x) Copyright © 2003 The Society for Investigative Dermatology, Inc Terms and Conditions

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