ITEM METADATA RECORD
Title: A novel mutation and first report of cardiomyopathy in ALG6-CDG (CDG-Ic): a case report
Authors: Al-Owain, Mohammed A ×
Mohamed, Sarar
Kaya, Namik
Zagal, Ahmad
Matthijs, Gert
Jaeken, Jacques #
Issue Date: Apr-2010
Publisher: BioMed Central
Series Title: Orphanet Journal of Rare Diseases vol:5 issue:1 pages:7
Article number: 10.1186/1750-1172-5-7
Abstract: ABSTRACT: 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.
URI: 
ISSN: 1750-1172
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Department of Human Genetics - miscellaneous
Section Child - Miscellaneous (-)
× corresponding author
# (joint) last author

Files in This Item:
File Description Status SizeFormat
Al-Owain JRD 2010.pdfOA article Published 622KbAdobe PDFView/Open Request a copy

These files are only available to some KU Leuven Association staff members

 




All items in Lirias are protected by copyright, with all rights reserved.

© Web of science