遗传性果糖不耐受症中该基因新突变的鉴定。

Identification of a novel mutation in the gene in hereditary fructose intolerance.

作者信息

Beyzaei Zahra, Ezgu Fatih, Imanieh Mohammad Hadi, Haghighat Mahmoud, Dehghani Seyed Mohsen, Honar Naser, Geramizadeh Bita

机构信息

Shiraz Transplant Research Center (STRC), Shiraz University of Medical Sciences, Shiraz, Iran.

Department of Pediatric Metabolism and Genetics, Gazi University Faculty of Medicine, Ankara, Türkiye.

出版信息

J Pediatr Endocrinol Metab. 2023 Jan 23;36(3):331-334. doi: 10.1515/jpem-2022-0566. Print 2023 Mar 28.

DOI:10.1515/jpem-2022-0566

PMID:36659819

Abstract

OBJECTIVES

Hereditary fructose intolerance (HFI) is caused by aldolase B enzyme deficiency. There has been no report about HFI from Iran and the type of mutations has not been reported in the Iranian population so far.

CASE PRESENTATION

Herein we report a 2 year old girl presented with failure to thrive, hepatomegaly, and liver dysfunction. The primary impression has been hepatic glycogen storage disease type 1 or 6. This diagnosis was not confirmed by laboratory data and liver biopsy. Therefore, targeted-gene sequencing (TGS) covering 450 genes involved in inborn errors in metabolic diseases was performed. The results of TGS showed a rare novel homozygous pathogenic variant c.944del (p.Gly315ValfsTer15) in the gene.

CONCLUSIONS

This report introduces a novel variant that expands the mutational spectrum of the gene in patients with HFI.

摘要

目的

遗传性果糖不耐受症（HFI）由醛缩酶B酶缺乏引起。伊朗尚无关于HFI的报道，且迄今为止伊朗人群中尚未报道过相关突变类型。

病例介绍

在此，我们报告一名2岁女童，出现生长发育迟缓、肝肿大和肝功能障碍。初步诊断为1型或6型肝糖原贮积病。实验室数据和肝活检未证实该诊断。因此，进行了涵盖450个参与先天性代谢疾病基因的靶向基因测序（TGS）。TGS结果显示该基因存在一种罕见的新型纯合致病性变异c.944del（p.Gly315ValfsTer15）。