Table 1.

Molecular Genetic Testing Used in Glycogen Storage Disease Type IV

Gene 1MethodProportion of Pathogenic Variants 2 Detectable by Method
GBE1 Sequence analysis 362/84 (74%) 4, 5
Gene-targeted deletion/duplication analysis 68/84 (10%) 7
1.
2.

See Molecular Genetics for information on allelic variants detected in this gene.

3.

Sequence analysis detects variants that are benign, likely benign, of uncertain significance, likely pathogenic, or pathogenic. Variants may include small intragenic deletions/insertions and missense, nonsense, and splice site variants; typically, exon or whole-gene deletions/duplications are not detected. For issues to consider in interpretation of sequence analysis results, click here.

4.
5.

Of 42 affected individuals, 37 had at least one identifiable variant detected by sequencing analysis; 28 individuals had biallelic pathogenic variants, and six had one identifiable pathogenic variant, implying that the second causative variant was not identified.

6.

Gene-targeted deletion/duplication analysis detects intragenic deletions or duplications. Methods used may include quantitative PCR, long-range PCR, multiplex ligation-dependent probe amplification (MLPA), and a gene-targeted microarray designed to detect single-exon deletions or duplications.

7.

Of the 42 affected individuals, three were homozygous for exon or multiexon deletions and two were compound heterozygous for one exon or multiexon deletion and one sequence variant detectable by sequence analysis [Li et al 2012, Magoulas et al 2012].

From: Glycogen Storage Disease Type IV

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