Table 2.

Molecular Genetic Testing Used in X-Linked Congenital Stationary Night Blindness

Gene 1, 2Proportion of X-Linked CSNB Attributed to Pathogenic Variants in GeneProportion of Pathogenic Variants 3 Detectable by Method
Sequence
analysis 4		Gene-targeted deletion/duplication analysis 5
CACNA1F 55% 6, 7>98% 6, 75 reported 8
NYX 45% 6, 9>99% 6, 9, 104 reported 10
1.

Genes are listed in alphabetic order.

2.

See Table A. Genes and Databases for chromosome locus and protein.

3.

See Molecular Genetics for information on allelic 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 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.

5.

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.

6.
7.
8.
9.
10.

From: X-Linked Congenital Stationary Night Blindness

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