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Novel ALDH3A2 Heterozygous Mutations in a Japanese Family with Sjögren–Larsson Syndrome  Kaori Sakai, Masashi Akiyama, Tomoyuki Watanabe, Kazunori Sanayama,

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Presentation on theme: "Novel ALDH3A2 Heterozygous Mutations in a Japanese Family with Sjögren–Larsson Syndrome  Kaori Sakai, Masashi Akiyama, Tomoyuki Watanabe, Kazunori Sanayama,"— Presentation transcript:

1 Novel ALDH3A2 Heterozygous Mutations in a Japanese Family with Sjögren–Larsson Syndrome 
Kaori Sakai, Masashi Akiyama, Tomoyuki Watanabe, Kazunori Sanayama, Katsuo Sugita, Mari Takahashi, Keisuke Suehiro, Kazuhiko Yorifuji, Akihiko Shibaki, Hiroshi Shimizu  Journal of Investigative Dermatology  Volume 126, Issue 11, Pages (November 2006) DOI: /sj.jid Copyright © 2006 The Society for Investigative Dermatology, Inc Terms and Conditions

2 Figure 1 Clinical features of the SLS patient. (a, b) In the perinatal period, xerotic skin, and fine scales were apparent over the (a) proband's trunk and (b) hyperkeratosis was severe on her legs. (c, d, e) At 2 years of age, fine, whitish scales were seen on her (c) cheek, (d) thigh, and the (e) dorsal foot. Journal of Investigative Dermatology  , DOI: ( /sj.jid ) Copyright © 2006 The Society for Investigative Dermatology, Inc Terms and Conditions

3 Figure 2 ALDH3A2 mutations in the present SLS patient and sequence alignments around the missense mutation. (a) Sequence analysis of the ALDH3A2. A combination of heterozygous mutations derived from their mother (332G>A (W111X) in exon 2) and father (636T>G (S212R) were detected. (b) FALDH amino-acid sequence alignment shows the level of conservation in diverse species of the amino-acid S212 (red characters), which was altered by the missense mutation in the present family. (c) A sequence alignment between the FALDH, rat class 3 and human class 1 and class 2 ALDHs showing the relative locations of key residues in these enzymes. Serine residue at codon 212 of FALDH is strictly conserved. Secondary structure components found in the class 3 rat ALDH structure are presented with a bar and arrows. The bar represents an α-helix and arrows represent β-strands. (Modified from the paper by Liu et al., (1997).) Journal of Investigative Dermatology  , DOI: ( /sj.jid ) Copyright © 2006 The Society for Investigative Dermatology, Inc Terms and Conditions

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