Case Report: ISPD Gene Mutation Leads to Dystroglycanopathies: Genotypic Phenotype Analysis and Treatment Exploration

Haiyan Yang; Fang Cai; Hongmei Liao; Siyi Gan; Ting Xiao; Liwen Wu

doi:10.3389/fped.2021.710553

Case Report: ISPD Gene Mutation Leads to Dystroglycanopathies: Genotypic Phenotype Analysis and Treatment Exploration

Front Pediatr. 2021 Aug 18:9:710553. doi: 10.3389/fped.2021.710553. eCollection 2021.

Authors

Haiyan Yang¹, Fang Cai², Hongmei Liao¹, Siyi Gan³, Ting Xiao³, Liwen Wu¹

Affiliations

¹ Department of Neurology, Hunan Children's Hospital, Changsha, China.
² Department of Neurology, Chenzhou No. 1 People's Hospital, Chenzhou, China.
³ Department of Pediatrics, Xiangya Hospital, Central South University, Changsha, China.

Abstract

ISPD gene mutation-related diseases have high clinical and genetic heterogeneity, and no studies have yet reported any effective treatments. We describe six patients with dystroglycanopathies caused by ISPD gene mutations and analyze their genotypes and phenotypes to explore possible effective treatments. Our results confirm that the phenotype of limb-girdle muscular dystrophies can be easily misdiagnosed as Duchenne muscular dystrophy and that exon deletions of ISPD gene are relatively common. Moreover, low-dose prednisone therapy can improve patients' exercise ability and prolong survival and may be a promising new avenue for ISPD therapy.

Keywords: Duchenne muscular dystrophy; ISPD gene; dystroglycanopathies; limb-girdle muscular dystrophies; pediatric.

Publication types

Case Reports