Table 1.

Molecular Genetic Testing Used in Molybdenum Cofactor Deficiency (MoCD)

Gene 1, 2Proportion of MoCD Attributed to Pathogenic Variants in GeneProportion of Pathogenic Variants 3 Detectable by Method
Sequence analysis 4Gene-targeted deletion/duplication analysis 5
GPHN 6~4%>95% 7Unknown 8
MOCS1 9~49%>95% 7Unknown 10
MOCS2 11~45%>95% 7Unknown 10
MOCS3 122%>95% 7Unknown 10
1.

Genes are listed in alphabetic order.

2.
3.

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

4.

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

5.

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.

6.

Phenotype is sometimes referred to as molybdenum cofactor deficiency type C.

7.

Percentages based on number of individuals reported in the literature; see also Misko et al [2020].

8.

A common deleted area within exons 3-5 in the G domain of the protein encoded by GPHN, suggesting this area as key to protein function; however, no data on detection rate of gene-targeted deletion/duplication analysis for this gene are available.

9.

Sometimes referred to as molybdenum cofactor deficiency type A

10.

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

11.

Sometimes referred to as molybdenum cofactor deficiency type B

12.

To date, the only individual with pathogenic variants in this gene had mild features of MoCD (see Phenotype Correlations by Gene). Because of the rarity of this cause of MoCD, disease related to this gene has not been given a further phenotypic letter designation.

From: Molybdenum Cofactor Deficiency

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