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. 2016 Jan 22;17:6. doi: 10.1186/s12881-016-0269-3

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© Ryu et al. 2016

Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.

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Fig. 1 — Mutation analysis of the SD-38 family with the p.M206Nfs*4 mutation. (a) Pedigree of Korean family SD-38. Squares and circles represent males and females, respectively. Filled symbols denote affected individuals, whereas unfilled symbols denote unaffected individuals. Diagonal lines through the symbols represent deceased members. The arrow indicates the proband of the SD-38 family. The individual evaluated in this study is marked with an asterisk. (b) Partial result of DNA sequencing analysis of the SLC17A8 gene for the proband (III-2) with p.M206Nfs*4 and a normal control. The wild type nucleotide sequence at position 616 is compared with that of the proband (III-2), which shows heterozygous c.616dupA, indicated with the arrow. (c) Alignment of the VGLUT3 amino acid sequence in different vertebrate species: Homo sapiens, Aotus nancymaae, Bos taurus, Mus musculus, Rattus norvegicus, Xenopus tropicalis, and Danio rerio. The arrow shows the position of the p.M206Nfs*4 mutation