Table 1 of
Abdalla-Elsayed, Mol Vis 2017; 23:778-784. Table 1 of
Abdalla-Elsayed, Mol Vis 2017; 23:778-784.
Table 1. Additional genetic variants identified by Next generation sequencing of retinal dystrophy genes in a patient with heterozygous OTX2 mutation associated with early onset retinal dystrophy with atypical maculopathy.
| Gene | Mutation | Allele frequency (ExAC) | Conclusion about likely pathogenicity |
|---|---|---|---|
| Cyclic nucleotide-gated channel, beta-1 gene (CNGB1 MIM#600724) | Exon 29, heterozygous missense variant c.2957 A>T (p.Asn986Ile) | 0.001 | Bioinformatic analysis tools predict pathogenicity, however the gene is not known to cause any dominant disease and a second pathogenic mutation was not found in this gene |
| Cyclic nucleotide-gated channel, beta-1 gene (CNGB1 MIM#600724) | Exon 17, heterozygous synonymous variant c.1479G>A | 0.01 | Unlikely pathogenic |
| Cyclic nucleotide-gated channel, beta-1 gene (CNGB1 MIM#600724) | Intron 7, heterozygous c.458+7C>T (rs368819628) | 0.0005 | Splice prediction programs do not predict impaired splicing |
| Microsomal triglyceride transfer protein gene (MTTP MIM#157147) | Heterozygous intronic variant c.394–7 C>T, 7 base pairs upstream to the exon that begins at position 394 | 0.0002 | Unlikely pathogenic |