关键词: 糖原累积病Ⅳ型, 二代测序, GBE1基因

Abstract: Objective To identify the mutation of glycogen-branching enzyme 1 (GBE1) gene in a family with glycogen storage disease type Ⅳ(GSD Ⅳ). Methods A 17-month-old Chinese girl was admitted to the Third Affiliated Hospital of Sun Yat-sen University (Guangzhou,China) with hepatosplenomegaly.She had shown signs of jaundice and failure to thrive.The peripheral blood samples from the proband and her parents and two older brothers were collected,and the pathogenic genes and mutational sites of the proband were screened by the next generation sequencing and verified by Sanger sequencing. Results In the family,the proband carried a homozygous mutation of c.1571G>A in the GBE1 gene,while his parents and the younger brother carried a heterozygous mutation of c.1571G>A.The older brother was normal.GSD Ⅳ was diagnosed and liver transplantation was recommended.The parents declined the liver transplantation.She died of liver failure at 22 months of age. Conclusions The clinical characteristics and gene mutation analysis of one pedigree with GSD Ⅳ and homozygous missense c.1571G>A mutation in GBE1 gene were first identified in mainland China.The identified mutations add to the list of GBE1 mutations of the hepatic form of GSD-IV.

Key words: glycogen storage disease type Ⅳ, next generation sequencing, glycogen-branching enzyme 1 gene