Table 1.

Molecular Genetic Testing Used in Achromatopsia

Gene 1Proportion of Achromatopsia Attributed to Pathogenic Variants in Gene 2 (Population)Proportion of Pathogenic Variants 3 Identified by Method
Sequence analysis 4Gene-targeted deletion/duplication analysis 5
ATF6 1.5%15/15 6None reported 7
CNGA3 5%-33% (European)
84% (Israeli & Palestinian) 8
80% (Chinese) 9		~100% 10None reported 7
CNGB3 60% (European)
16% (Israeli & Palestinian) 11		~95% 127 distinct deletions in 7 families; 3 duplications in 10 families 13
GNAT2 1.8%~99%3 families 14
PDE6C 2.5% 15All reported 16None reported 7
PDE6H 0.1%See footnote 17.None reported 7
Unknown10%-25% 18NA
1.
2.

Mayer et al [2017] unless otherwise noted

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.
7.

Larger deletions, insertions, or duplications have either not been reported or are confined to single reports or families [Rosenberg et al 2004]. Consequently, the prevalence and detection rate for such pathogenic variants cannot be estimated.

8.
9.
10.
11.
12.

Of 163 individuals with pathogenic variants in CNGB3, 105 (64%) were homozygotes for c.1148delC, 44 (27%) were compound heterozygotes, and in 14 (9%) only one pathogenic variant was identified [Mayer et al 2017].

13.
14.

Rosenberg et al [2004]; S Kohl, unpublished data

15.
16.
17.

A single nonsense variant has been reported in three families [Kohl et al 2012, Pedurupillay et al 2016].

18.

From: Achromatopsia

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