lunes, 4 de agosto de 2014

European Journal of Human Genetics - Clinical utility gene card for: ALG6 defective congenital disorder of glycosylation

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European Journal of Human Genetics - Clinical utility gene card for: ALG6 defective congenital disorder of glycosylation



Clinical Utility Gene Card

European Journal of Human Genetics advance online publication 23 July 2014; doi: 10.1038/ejhg.2014.146

Clinical utility gene card for: ALG6 defective congenital disorder of glycosylation

Jaak Jaeken1, Dirk Lefeber2 and Gert Matthijs3
  1. 1Centre for Metabolic Disease, University Hospital Gasthuisberg, KU Leuven, Leuven, Belgium
  2. 2Department of Neurology, Laboratory of Genetic, Endocrine and Metabolic Diseases, Nijmegen, The Netherlands
  3. 3Centre for Human Genetics, KU Leuven, Leuven, Belgium
Correspondence: Professor J Jaeken, Centre for Metabolic Disease, University Hospital Gasthuisberg, KU Leuven, Herestraat 49, BE 3000 Leuven, Belgium. Tel: +32 16 343827; Fax: +32 16 343842; E-mail: jaak.jaeken@med.kuleuven.be
Received 12 April 2014; Revised 18 June 2014; Accepted 25 June 2014
Advance online publication 23 July 2014
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1. Disease characteristics

1.1 Name of the disease (synonyms)

Deficiency of Dol-P-Glc: Man9GlcNAc2-PP-Dol α-1,3-glucosyltransferase, glucosyltransferase 1 deficiency, ALG6-CDG, CDG-Ic.

1.2 OMIM# of the disease

603147.

1.3 Name of the analysed genes or DNA/chromosome segments

ALG6.

1.4 OMIM# of the gene

604566.

1.5 Mutational spectrum

Twenty-three variants have been reported, including 11 missense variants, 1 nonsense variant, 5 deletion variants, 4 splicing variants, and 1 duplication variant. In one patient, a portion of chromosome 1 including ALG6 was deleted as a de novo event1234 (www.lovd.nl/ALG6). The standard reference sequence indicating reported variants (ENSG00000088035) and a reference for exon numbering (ENST00000371108) can be found at http://www.ensembl.org.

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