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Title: ALG6-CDG in South Africa: Genotype-Phenotype Description of Five Novel Patients
Authors: Dercksen, M ×
Crutchley, A C
Honey, E M
Lippert, M M
Matthijs, Gert
Mienie, L J
Schuman, H C
Vorster, B C
Jaeken, Jaak #
Issue Date: 2013
Publisher: Springer
Series Title: JIMD Reports vol:8 pages:17-23
Article number: 10.1007/8904_2012_150
Abstract: ALG6-CDG (formerly named CDG-Ic) (phenotype OMIM 603147, genotype OMIM 604566), is caused by defective endoplasmic reticulum α-1,3-glucosyltransferase (E.C 2.4.1.267) in the N-glycan assembly pathway (Grünewald et al. 2000). It is the second most frequent N-glycosylation disorder after PMM2-CDG; some 37 patients have been reported with 21 different ALG6 gene mutations (Haeuptle & Hennet 2009; Al-Owain 2010). We report on the clinical and biochemical findings of five novel Caucasian South African patients. The first patient had a severe neuro-gastrointestinal presentation. He was compound heterozygous for the known c.998C>T (p.A333V) mutation and the novel c.1338dupA (p.V447SfsX44) mutation. Four more patients, presenting with classical neurological involvement were identified and were compound heterozygous for the known c.257 + 5G>A splice mutation and the c.680G>A (p.G227E) missense mutation. The patients belong to a semi-isolated Caucasian community that may have originated from European pioneers who colonized South Africa in the seventeenth/eighteenth centuries.
URI: 
ISSN: 2192-8304
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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