AUTHOR=Yang Haiyan , Cai Fang , Liao Hongmei , Gan Siyi , Xiao Ting , Wu Liwen 

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

JOURNAL=Frontiers in Pediatrics

VOLUME=9

YEAR=2021

URL=https://www.frontiersin.org/journals/pediatrics/articles/10.3389/fped.2021.710553

DOI=10.3389/fped.2021.710553

ISSN=2296-2360

ABSTRACT=<p><italic>ISPD</italic> 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 <italic>ISPD</italic> 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 <italic>ISPD</italic> 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 <italic>ISPD</italic> therapy.</p>