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A novel mutation in the homogentisate 1,2 dioxygenase gene identified in Chinese Hani pediatric patients with Alkaptonuria

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机构： [1]Yunnan Medical Center for Pediatric Diseases, Yunnan Institute of Pediatrics, Kunming Children’s Hospital, Kunming 650228, Yunnan, China [2]Department of Gastroenterology, Kunming Children’s Hospital, Kunming 650228, Yunnan, China [3]Department of Clinical Laboratory, Kunming Children’s Hospital, Kunming 650228, Yunnan, China [4]Kunming Key Laboratory of Children Infection and Immunity, Yunnan Key Laboratory of Children’s Major Disease Research, Yunnan Province Clinical Research Center for Children’s Health and Disease, Kunming 650228, Yunnan, China

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关键词： Alkaptonuria AKU Homogentisate 1 2-dioxygenase HGD Homogentisic acid Mutation

摘要：

Alkaptonuria (AKU) is a rare tyrosine metabolism disorder caused by homogentisate 1,2-dioxygenase (HGD) mutations and homogentisic acid (HGA) accumulation. In this study, we investigated the genotype-phenotype relationship in AKU patients with a novel HGD gene mutation from a Chinese Hani family.Routine clinical examination and laboratory evaluation were performed, urine alkalinization test and urinary gas chromatography-mass spectrometry were used to assess HGA. Gene sequencing was utilized to study the defining features of AKU. NetGene2-2.42 and BDGP software was used to predict protein structure online. Flow cytometry and RT-PCR were used to analyze HGD proteins and HGD mRNA, respectively.Two pediatric patients fulfilled diagnostic criteria for AKU with eddish-brown or black diapers and urine HGA testing. Sequencing testing revealed that all members of this family had a novel samesense mutation c.15G > A at the edge of exon 1 of the HGD. By flow cytometry, the expression of HGD protein in the pediatric patients' peripheral blood mononuclear cells was barely expressed. NetGene2-2.42 and BDGP software showed that the mutation reduced the score of the 5' splice donor site and disrupted its normal splicing, and the RT-PCR product also demonstrated that the defect in the HGD protein was due to the lack of the first exon containing the start codon ATG after the mutation.The novel mutation c.15G > A in HGD is associated with the AKU phenotype. It may affect the splicing of exon 1, leading to exon skipping, which impairs the structure and function of the protein.Copyright © 2022. Published by Elsevier B.V.

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出版当年[2022]版：

大类 | 3 区医学

小类 | 2 区医学实验技术

最新[2023]版：

大类 | 3 区医学

小类 | 3 区医学实验技术

第一作者：

第一作者机构： [1]Yunnan Medical Center for Pediatric Diseases, Yunnan Institute of Pediatrics, Kunming Children’s Hospital, Kunming 650228, Yunnan, China [4]Kunming Key Laboratory of Children Infection and Immunity, Yunnan Key Laboratory of Children’s Major Disease Research, Yunnan Province Clinical Research Center for Children’s Health and Disease, Kunming 650228, Yunnan, China

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通讯作者：

通讯机构： [1]Yunnan Medical Center for Pediatric Diseases, Yunnan Institute of Pediatrics, Kunming Children’s Hospital, Kunming 650228, Yunnan, China [2]Department of Gastroenterology, Kunming Children’s Hospital, Kunming 650228, Yunnan, China [4]Kunming Key Laboratory of Children Infection and Immunity, Yunnan Key Laboratory of Children’s Major Disease Research, Yunnan Province Clinical Research Center for Children’s Health and Disease, Kunming 650228, Yunnan, China [*1]Yunnan Institute of Pediatrics, Kunming Children’s Hospital, Kunming Key Laboratory of Children Infection and Immunity, Yunnan Key Laboratory of Children’s Major Disease Research, Yunnan Province Clinical Research Center for Children’s Health and Disease, Kunming, Yunnan, China [*2]Department of Gastroenterology, Kunming Children’s Hospital, Kunming, Yunnan, China

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A novel mutation in the homogentisate 1,2 dioxygenase gene identified in Chinese Hani pediatric patients with Alkaptonuria

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