ALG6-CDG in South Africa: Genotype-Phenotype Description of Five Novel Patients.

JIMD reports ·Vol. 8 ·2013-00-00 ·Pages 17-23

Dercksen M, Crutchley AC, Honey EM, Lippert MM, Matthijs G, Mienie LJ, Schuman HC, Vorster BC, Jaeken J

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.

Authors & Affiliations

9 authors, click to expand affiliations / ORCID

Dercksen M

Centre for Human Metabonomics, North-West University, Potchefstroom, South Africa, marli.dercksen@nwu.ac.za.

Crutchley A C

Honey E M

Lippert M M

Matthijs G

Mienie L J

Schuman H C

Vorster B C

Jaeken J

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Article Info

Journal

JIMD reports

Abbr.

JIMD Rep

ISSN

2192-8304

DOI

10.1007/8904_2012_150

marli.dercksen@nwu.ac.za

Published

2013-00-00

Epub

2012-00-01

Pages

17-23

Language

English

Region

United States

NLM ID

101568557

PMCID

PMC3565642

External Links

PubMed source DOI: 10.1007/8904_2012_150 PMC Full Text

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ALG6-CDG in South Africa: Genotype-Phenotype Description of Five Novel Patients.

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