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

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

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 treat...

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Main Authors: Haiyan Yang, Fang Cai, Hongmei Liao, Siyi Gan, Ting Xiao, Liwen Wu
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-08-01
Series:Frontiers in Pediatrics
Subjects:
ISPD gene
dystroglycanopathies
limb-girdle muscular dystrophies
Duchenne muscular dystrophy
pediatric
Online Access:https://www.frontiersin.org/articles/10.3389/fped.2021.710553/full
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spelling doaj-56f5114f8c144521b67cf8d3115f69fb2021-08-18T08:23:33ZengFrontiers Media S.A.Frontiers in Pediatrics2296-23602021-08-01910.3389/fped.2021.710553710553Case Report: ISPD Gene Mutation Leads to Dystroglycanopathies: Genotypic Phenotype Analysis and Treatment ExplorationHaiyan Yang0Fang Cai1Hongmei Liao2Siyi Gan3Ting Xiao4Liwen Wu5Department of Neurology, Hunan Children's Hospital, Changsha, ChinaDepartment of Neurology, Chenzhou No. 1 People's Hospital, Chenzhou, ChinaDepartment of Neurology, Hunan Children's Hospital, Changsha, ChinaDepartment of Pediatrics, Xiangya Hospital, Central South University, Changsha, ChinaDepartment of Pediatrics, Xiangya Hospital, Central South University, Changsha, ChinaDepartment of Neurology, Hunan Children's Hospital, Changsha, ChinaISPD 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.https://www.frontiersin.org/articles/10.3389/fped.2021.710553/fullISPD genedystroglycanopathieslimb-girdle muscular dystrophiesDuchenne muscular dystrophypediatric
collection DOAJ
language English
format Article
sources DOAJ
author Haiyan Yang
Fang Cai
Hongmei Liao
Siyi Gan
Ting Xiao
Liwen Wu
spellingShingle Haiyan Yang
Fang Cai
Hongmei Liao
Siyi Gan
Ting Xiao
Liwen Wu
Case Report: ISPD Gene Mutation Leads to Dystroglycanopathies: Genotypic Phenotype Analysis and Treatment Exploration
Frontiers in Pediatrics
ISPD gene
dystroglycanopathies
limb-girdle muscular dystrophies
Duchenne muscular dystrophy
pediatric
author_facet Haiyan Yang
Fang Cai
Hongmei Liao
Siyi Gan
Ting Xiao
Liwen Wu
author_sort Haiyan Yang
title Case Report: ISPD Gene Mutation Leads to Dystroglycanopathies: Genotypic Phenotype Analysis and Treatment Exploration
title_short Case Report: ISPD Gene Mutation Leads to Dystroglycanopathies: Genotypic Phenotype Analysis and Treatment Exploration
title_full Case Report: ISPD Gene Mutation Leads to Dystroglycanopathies: Genotypic Phenotype Analysis and Treatment Exploration
title_fullStr Case Report: ISPD Gene Mutation Leads to Dystroglycanopathies: Genotypic Phenotype Analysis and Treatment Exploration
title_full_unstemmed Case Report: ISPD Gene Mutation Leads to Dystroglycanopathies: Genotypic Phenotype Analysis and Treatment Exploration
title_sort case report: ispd gene mutation leads to dystroglycanopathies: genotypic phenotype analysis and treatment exploration
publisher Frontiers Media S.A.
series Frontiers in Pediatrics
issn 2296-2360
publishDate 2021-08-01
description 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.
topic ISPD gene
dystroglycanopathies
limb-girdle muscular dystrophies
Duchenne muscular dystrophy
pediatric
url https://www.frontiersin.org/articles/10.3389/fped.2021.710553/full
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AT siyigan casereportispdgenemutationleadstodystroglycanopathiesgenotypicphenotypeanalysisandtreatmentexploration
AT tingxiao casereportispdgenemutationleadstodystroglycanopathiesgenotypicphenotypeanalysisandtreatmentexploration
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