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
- 1Centre for Metabolic Disease, University Hospital Gasthuisberg, KU Leuven, Leuven, Belgium
- 2Department of Neurology, Laboratory of Genetic, Endocrine and Metabolic Diseases, Nijmegen, The Netherlands
- 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
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 event1, 2, 3, 4 (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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