First report of HGD mutations in a Chinese with alkaptonuria
| Autor: | Liu Zhao, Yongjia Yang, Jihong Guo, Weijian Chen, Yimin Zhu, Ming Tu, Jin-song Tang, Xiao-hua Meng, Rui Zhao, Xin-yu He, Lingqian Wu |
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| Rok vydání: | 2012 |
| Předmět: |
Male
China education Molecular Sequence Data Mutation Missense Biology Alkaptonuria symbols.namesake Exon Asian People Genetics medicine Missense mutation Humans Amino Acid Sequence Homogentisate 1 2-dioxygenase Homogentisate 1 2-Dioxygenase General Medicine Exons medicine.disease Molecular biology Phenotype digestive system diseases surgical procedures operative RNA splicing Mutation (genetic algorithm) Mutation Mendelian inheritance symbols Nucleic Acid Conformation Female |
| Zdroj: | Gene. 518(2) |
| ISSN: | 1879-0038 |
| Popis: | Alkaptonuria (AKU) is one of the first prototypic inborn errors in metabolism and the first human disease found to be transmitted via Mendelian autosomal recessive inheritance. It is caused by HGD mutations, which leads to a deficiency in homogentisate 1,2-dioxygenase (HGD) activity. To date, several HGD mutations have been identified as the cause of the prototypic disease across different ethnic populations worldwide. However, in Asia, the HGD mutation is very rarely reported. For the Chinese population, no literature on HGD mutation screening is available to date. In this paper, we describe two novel HGD mutations in a Chinese AKU family, the splicing mutation of IVS7+1G>C, a donor splice site of exon 7, and a missense mutation of F329C in exon 12. The predicted new splicing site of the mutated exon 7 sequence demonstrated a 303bp extension after the mutation site. The F329C mutation most probably disturbed the stability of the conformation of the two loops critical to the Fe(2+) active site of the HGD enzyme. |
| Databáze: | OpenAIRE |
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