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Case report: Familial glycogen storage disease type IV caused by novel compound heterozygous mutations in a glycogen branching enzyme 1 gene

Glycogen storage disease type IV (GSD IV), caused by a mutation in the glycogen branching enzyme 1 (GBE1) gene, is a rare metabolic disorder with an autosomal recessive inheritance that involves the liver, neuromuscular, and cardiac systems. Here, we reported a case of familial GSD IV induced by nov...

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Autores principales: Li, Yiyang, Tian, Chuan, Huang, Si, Zhang, Weijie, Liutang, Qiuyu, Wang, Yajun, Ma, Guoda, Chen, Riling
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9679404/
https://www.ncbi.nlm.nih.gov/pubmed/36425069
http://dx.doi.org/10.3389/fgene.2022.1033944
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author Li, Yiyang
Tian, Chuan
Huang, Si
Zhang, Weijie
Liutang, Qiuyu
Wang, Yajun
Ma, Guoda
Chen, Riling
author_facet Li, Yiyang
Tian, Chuan
Huang, Si
Zhang, Weijie
Liutang, Qiuyu
Wang, Yajun
Ma, Guoda
Chen, Riling
author_sort Li, Yiyang
collection PubMed
description Glycogen storage disease type IV (GSD IV), caused by a mutation in the glycogen branching enzyme 1 (GBE1) gene, is a rare metabolic disorder with an autosomal recessive inheritance that involves the liver, neuromuscular, and cardiac systems. Here, we reported a case of familial GSD IV induced by novel compound heterozygous mutations in GBE1. The proband (at age 1) and her younger brother (at age 10 months) manifested hepatosplenomegaly, liver dysfunction, and growth retardation at onset, followed by progressive disease deterioration to liver cirrhosis with liver failure. During the disease course, the proband presented rare intractable asymptomatic hypoglycemia. The liver pathology was in line with GSD IV. Both cases carried pathogenic compound heterozygous mutations in GBE1 mutations, i.e., a missense mutation (c.271T>A, p. W91R) in exon 2 and a deletion mutation in partial exons 3–7. Both mutations are first reported. The internationally pioneered split-liver transplantation was performed during progression to end-stage liver disease, and the patients had normal liver function and blood glucose after. This study broadens the mutation spectrum of the GBE1 gene and the phenotypic spectrum of GSD IV.
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spelling pubmed-96794042022-11-23 Case report: Familial glycogen storage disease type IV caused by novel compound heterozygous mutations in a glycogen branching enzyme 1 gene Li, Yiyang Tian, Chuan Huang, Si Zhang, Weijie Liutang, Qiuyu Wang, Yajun Ma, Guoda Chen, Riling Front Genet Genetics Glycogen storage disease type IV (GSD IV), caused by a mutation in the glycogen branching enzyme 1 (GBE1) gene, is a rare metabolic disorder with an autosomal recessive inheritance that involves the liver, neuromuscular, and cardiac systems. Here, we reported a case of familial GSD IV induced by novel compound heterozygous mutations in GBE1. The proband (at age 1) and her younger brother (at age 10 months) manifested hepatosplenomegaly, liver dysfunction, and growth retardation at onset, followed by progressive disease deterioration to liver cirrhosis with liver failure. During the disease course, the proband presented rare intractable asymptomatic hypoglycemia. The liver pathology was in line with GSD IV. Both cases carried pathogenic compound heterozygous mutations in GBE1 mutations, i.e., a missense mutation (c.271T>A, p. W91R) in exon 2 and a deletion mutation in partial exons 3–7. Both mutations are first reported. The internationally pioneered split-liver transplantation was performed during progression to end-stage liver disease, and the patients had normal liver function and blood glucose after. This study broadens the mutation spectrum of the GBE1 gene and the phenotypic spectrum of GSD IV. Frontiers Media S.A. 2022-11-08 /pmc/articles/PMC9679404/ /pubmed/36425069 http://dx.doi.org/10.3389/fgene.2022.1033944 Text en Copyright © 2022 Li, Tian, Huang, Zhang, Liutang, Wang, Ma and Chen. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Genetics
Li, Yiyang
Tian, Chuan
Huang, Si
Zhang, Weijie
Liutang, Qiuyu
Wang, Yajun
Ma, Guoda
Chen, Riling
Case report: Familial glycogen storage disease type IV caused by novel compound heterozygous mutations in a glycogen branching enzyme 1 gene
title Case report: Familial glycogen storage disease type IV caused by novel compound heterozygous mutations in a glycogen branching enzyme 1 gene
title_full Case report: Familial glycogen storage disease type IV caused by novel compound heterozygous mutations in a glycogen branching enzyme 1 gene
title_fullStr Case report: Familial glycogen storage disease type IV caused by novel compound heterozygous mutations in a glycogen branching enzyme 1 gene
title_full_unstemmed Case report: Familial glycogen storage disease type IV caused by novel compound heterozygous mutations in a glycogen branching enzyme 1 gene
title_short Case report: Familial glycogen storage disease type IV caused by novel compound heterozygous mutations in a glycogen branching enzyme 1 gene
title_sort case report: familial glycogen storage disease type iv caused by novel compound heterozygous mutations in a glycogen branching enzyme 1 gene
topic Genetics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9679404/
https://www.ncbi.nlm.nih.gov/pubmed/36425069
http://dx.doi.org/10.3389/fgene.2022.1033944
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