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. 2014 Dec 3;7:66. doi: 10.1186/s12920-014-0066-9

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© Shi et al.; licensee BioMed Central Ltd. 2014

This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly credited. 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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Sanger validation and structural modeling of the two compound heterozygous candidate variants in NAGLU in the family quartet. (A) Validation of the chr17 :40695717(C > T) mutation by Sanger sequencing in the family. (B) Validation of the chr17 :40693129 (A > G) mutation by Sanger sequencing in the family. (C) Structural location of mutation R565W and Y309C in NAGLU. We have built a structure model based on a close homolog structure (PDB identifier: 2VC9) of CpGH89 from Clostridium perfringens. The template structure 2VC9 binds to 2-ACETAMIDO-1,2-DIDEOXYNOJIRMYCIN (PDB identifier: NOK).