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A compound heterozygous mutation in DPAGT1 results in a congenital disorder of glycosylation with a relatively mild phenotype.
- Source :
-
European Journal of Human Genetics . Aug2013, Vol. 21 Issue 8, p844-849. 6p. 1 Color Photograph, 3 Diagrams, 2 Charts. - Publication Year :
- 2013
-
Abstract
- Congenital disorders of glycosylation (CDG) are a large group of recessive multisystem disorders caused by impaired protein or lipid glycosylation. The CDG-I subgroup is characterized by protein N-glycosylation defects originating in the endoplasmic reticulum. The genetic defect is known for 17 different CDG-I subtypes. Patients in the few reported DPAGT1-CDG families exhibit severe intellectual disability (ID), epilepsy, microcephaly, severe hypotonia, facial dysmorphism and structural brain anomalies. In this study, we report a non-consanguineous family with two affected adults presenting with a relatively mild phenotype consisting of moderate ID, epilepsy, hypotonia, aggressive behavior and balance problems. Exome sequencing revealed a compound heterozygous missense mutation, c.85A>T (p.I29F) and c.503T>C (p.L168P), in the DPAGT1 gene. The affected amino acids are located in the first and fifth transmembrane domains of the protein. Isoelectric focusing and high-resolution mass spectrometry analyses of serum transferrin revealed glycosylation profiles that are consistent with a CDG-I defect. Our results show that the clinical spectrum of DPAGT1-CDG is much broader than appreciated so far. [ABSTRACT FROM AUTHOR]
Details
- Language :
- English
- ISSN :
- 10184813
- Volume :
- 21
- Issue :
- 8
- Database :
- Academic Search Index
- Journal :
- European Journal of Human Genetics
- Publication Type :
- Academic Journal
- Accession number :
- 89220873
- Full Text :
- https://doi.org/10.1038/ejhg.2012.257