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A novel mutation and first report of dilated cardiomyopathy in ALG6-CDG (CDG-Ic): a case report
Congenital disorders of glycosylation (CDG) are an expanding group of inherited metabolic diseases with multisystem involvement. ALG6-CDG (CDGIc) is an endoplasmatic reticulum defect in N-glycan assembly. It is usually milder than PMM2-CDG (CDG-Ia) and so is its natural course. It is characterized b...
Autores principales: | , , , , , |
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Formato: | Texto |
Lenguaje: | English |
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BioMed Central
2010
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2861021/ https://www.ncbi.nlm.nih.gov/pubmed/20398363 http://dx.doi.org/10.1186/1750-1172-5-7 |
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author | Al-Owain, Mohammed Mohamed, Sarar Kaya, Namik Zagal, Ahmad Matthijs, Gert Jaeken, Jaak |
author_facet | Al-Owain, Mohammed Mohamed, Sarar Kaya, Namik Zagal, Ahmad Matthijs, Gert Jaeken, Jaak |
author_sort | Al-Owain, Mohammed |
collection | PubMed |
description | Congenital disorders of glycosylation (CDG) are an expanding group of inherited metabolic diseases with multisystem involvement. ALG6-CDG (CDGIc) is an endoplasmatic reticulum defect in N-glycan assembly. It is usually milder than PMM2-CDG (CDG-Ia) and so is its natural course. It is characterized by psychomotor retardation, seizures, ataxia, and hypotonia. In contrast to PMM2-CDG (CDGIa), there is no cerebellar hypoplasia. Cardiomyopathy has been reported in a few CDG types and in a number of patients with unexplained CDG. We report an 11 year old Saudi boy with severe psychomotor retardation, seizures, strabismus, inverted nipples, dilated cardiomyopathy, and a type 1 pattern of serum transferrin isoelectrofocusing. Phosphomannomutase and phosphomannose isomerase activities were normal in fibroblasts. Full gene sequencing of the ALG6 gene revealed a novel mutation namely c.482A>G (p.Y161C) and heterozygosity in the parents. This report highlights the importance to consider CDG in the differential diagnosis of unexplained cardiomyopathy. |
format | Text |
id | pubmed-2861021 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2010 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-28610212010-04-29 A novel mutation and first report of dilated cardiomyopathy in ALG6-CDG (CDG-Ic): a case report Al-Owain, Mohammed Mohamed, Sarar Kaya, Namik Zagal, Ahmad Matthijs, Gert Jaeken, Jaak Orphanet J Rare Dis Case Report Congenital disorders of glycosylation (CDG) are an expanding group of inherited metabolic diseases with multisystem involvement. ALG6-CDG (CDGIc) is an endoplasmatic reticulum defect in N-glycan assembly. It is usually milder than PMM2-CDG (CDG-Ia) and so is its natural course. It is characterized by psychomotor retardation, seizures, ataxia, and hypotonia. In contrast to PMM2-CDG (CDGIa), there is no cerebellar hypoplasia. Cardiomyopathy has been reported in a few CDG types and in a number of patients with unexplained CDG. We report an 11 year old Saudi boy with severe psychomotor retardation, seizures, strabismus, inverted nipples, dilated cardiomyopathy, and a type 1 pattern of serum transferrin isoelectrofocusing. Phosphomannomutase and phosphomannose isomerase activities were normal in fibroblasts. Full gene sequencing of the ALG6 gene revealed a novel mutation namely c.482A>G (p.Y161C) and heterozygosity in the parents. This report highlights the importance to consider CDG in the differential diagnosis of unexplained cardiomyopathy. BioMed Central 2010-04-16 /pmc/articles/PMC2861021/ /pubmed/20398363 http://dx.doi.org/10.1186/1750-1172-5-7 Text en Copyright ©2010 Al-Owain et al; licensee BioMed Central Ltd. http://creativecommons.org/licenses/by/2.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Case Report Al-Owain, Mohammed Mohamed, Sarar Kaya, Namik Zagal, Ahmad Matthijs, Gert Jaeken, Jaak A novel mutation and first report of dilated cardiomyopathy in ALG6-CDG (CDG-Ic): a case report |
title | A novel mutation and first report of dilated cardiomyopathy in ALG6-CDG (CDG-Ic): a case report |
title_full | A novel mutation and first report of dilated cardiomyopathy in ALG6-CDG (CDG-Ic): a case report |
title_fullStr | A novel mutation and first report of dilated cardiomyopathy in ALG6-CDG (CDG-Ic): a case report |
title_full_unstemmed | A novel mutation and first report of dilated cardiomyopathy in ALG6-CDG (CDG-Ic): a case report |
title_short | A novel mutation and first report of dilated cardiomyopathy in ALG6-CDG (CDG-Ic): a case report |
title_sort | novel mutation and first report of dilated cardiomyopathy in alg6-cdg (cdg-ic): a case report |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2861021/ https://www.ncbi.nlm.nih.gov/pubmed/20398363 http://dx.doi.org/10.1186/1750-1172-5-7 |
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