A novel compound heterozygous GAA mutation in a Chinese family with juvenile onset form of Pompe disease with cardiomyopathy.

ABSTRACT: Pompe disease is an autosomal recessive disorder resulting from a deficiency of acid α-glucosidase (GAA). It is uncommon in the mainland of China, due to rare mutations in the GAA gene. The aim of this work was to elucidate the causative role of a novel compound heterozygous mutation of juvenile onset Pompe disease. In this study, clinical samples were obtained from two siblings with muscle weakness, recurrent airway infections, cardiomyopathy and respiratory insufficiency in a non-consanguineous Chinese family. The α-glucosidase activity in leukocytes of both children was low. Next-generation sequencing was performed on the 19 coding exons of GAA in both children, with confirmation by Sanger sequencing. Next-generation sequencing showed the same compound heterozygous GAA mutation (c.1216G

SUBMITTER: Xu L 

PROVIDER: S-EPMC6966062 | biostudies-literature | 2017

REPOSITORIES: biostudies-literature