GBE1基因突变型糖原累积病Ⅳ型1例报告

A new GBE1 mutation that causes glycogen accumulation disease type Ⅳ:a case report and literature review

目的探讨GBE1基因突变的糖原累积病Ⅳ型(GSD Ⅳ)患儿的临床特点及其家系的基因突变情况。方法分析1例GSD Ⅳ患儿的临床表现、肝脏病理结果及其父母的全外显子基因测序情况,并进行文献复习。结果患儿,男,1岁10个月,肝脾肿大6月余伴发热7天;肝脏组织病理示慢性肝损伤,不能除外遗传代谢病。全基因外显子检测示患儿存在2种新的GBE1基因的杂合突变,分别为来自父亲的c.1694G>A杂合突变(致病性变异)和来自母亲的c.218A>G杂合突变(疑似致病性变异)。结合患儿临床表现、病理及基因检测结果确诊为肝型GSD Ⅳ。结论新发现GEB 1基因c. 1694 G>A的致病性杂合突变,丰富了GSD Ⅳ型在中国人群的突变谱。

Objective To explore the clinical characteristics of glycogen accumulation disease type Ⅳ(GSD Ⅳ) caused by GBE 1 gene mutation in a child and the genetic mutations in the families. Methods The clinical manifestations, liver pathological results and parental all-exon gene sequencing of a child with GSD Ⅳ were analyzed and therelated literature was reviewed. Results A 1-year-and 10-month-old boy suffered from hepatosplenomegaly for more than 6 months and fever for 7 days. Liver histopathology showed chronic liver injury, and genetic metabolic disease could not be excluded. Whole-genome exon detection showed that the child had two new heterozygous mutations in GBE 1 gene, the heterozygous mutation from the father(c. 1694 G>A, pathogenic mutation) and the heterozygous mutation from the mother(c. 218 A>G, suspected pathogenic mutation). Combined with the clinical manifestations, pathology and genetic test results, the patient was diagnosed with hepatic GSD Ⅳ. Conclusions The newly discovered pathogenic heterozygous mutationof GEB 1 gene,C. 1694 G>A,enriches the mutation spectrum of GSD Ⅳ in Chinese population.