Clinical and genetic analysis of a child with Canavan disease due to compound heterozygous variants of ASPA gene

VernacularTitle:ASPA基因变异所致Canavan病1例患儿的临床及遗传学分析
Author: Shasha NIU ¹ ; Yanyan MA ; Yuqiang LYU ; Hongmei XIN ; Dong WANG ; Yanxin WANG ; Ya′nan YANG ; Zilong LI ; Yi LIU ; Zhongtao GAI
Author Information

1. 山东大学附属儿童医院，济南　250022
Keywords: Canavan disease; ASPA gene; High-throughput sequencing; Sanger sequencing; Child
From: Chinese Journal of Medical Genetics 2024;41(2):225-229
CountryChina
Language:Chinese
Abstract: Objective:To analyze the clinical phenotype and genetic characteristics for a child with Canavan disease.Methods:A child who was admitted to the Children's Hospital Affiliated to Shandong University on April 9, 2021 for inability to uphold his head for 2 months and increased muscle tone for one week was subjected to whole exome sequencing, and candidate variants were verified by Sanger sequencing.Results:Genetic testing revealed that the child has harbored compound heterozygous variants of the ASPA gene, including a paternally derived c. 556_559dupGTTC (p. L187Rfs*5) and a maternally derived c.919delA (p. S307Vfs*24). Based on the guidelines from the American College of Medical Genetics and Genomics, both variants were predicted to be pathogenic (PVS1+ PM2_Supporting+ PM3). Conclusion:The c. 556_559dupGTTC (p.L187Rfs*5) and c. 919delA (p.S307Vfs*24) compound heterozygous variants of the ASPA gene probably underlay the pathogenesis of Canavan disease in this child.