Table 1.

Molecular Genetic Testing Used in Creatine Deficiency Disorder

Gene 1, 2Proportion of CDD Attributed to Pathogenic Variants in Gene 3Proportion of Pathogenic Variants 3, 4 Detectable by Method
Sequence analysis 5Gene-targeted deletion/duplication analysis 6
GAMT 33% (20%)~100%Unknown 7
GATM 3% (8%)~100% (94%)Unknown (6%)
SLC6A8 64% (72%)~95% (100%)~5% (0%)
1.

Genes are listed in alphabetic order.

2.
3.

Percentages are based on number of families in authors' own databases / LOVD (SLC6A8, GATM, GAMT); percentages in ( )s are based on the subscription-based professional view of Human Gene Mutation Database [Stenson et al 2020], if different.

4.

See Molecular Genetics for information on variants detected in these genes.

5.

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.

6.

Gene-targeted deletion/duplication analysis detects intragenic deletions or duplications. Methods used may include a range of techniques such as 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.

No data on detection rate of gene-targeted deletion/duplication analysis are available.

From: Creatine Deficiency Disorders

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