Table 1.
Demographics, molecular changes and subjective perceived impairment in sense of smell for the patients included in the present study
| Patient number | Age (years) | Sex | Variant 1 | Variant 2 | Both variants in channel domain? | Subjective sense of smell | ||
|---|---|---|---|---|---|---|---|---|
| Base change | Effect | Base change | Effect | |||||
| 1 | 50 | M | c.2777-?_2958+?del (Exon 28-29 deletion) | p.? | c.2777-?_2958+?del (Exon 28-29 deletion) | p.? | Yes | Absent |
| 2 | 45 | F | c.2957A>T | p.(Asn986Ile) | c.2957A>T | p.(Asn986Ile) | Yes | Normal |
| 3 | 68 | M | c.2285G>A | p.(Arg762His) | c.2285G>A | p.(Arg762His) | Yes | Normal |
| 4 | 53 | F | c.2544dupG | p.(Leu849Alafs*3) | c.2544dupG | p.(Leu849Alafs*3) | Yes | Reduced |
| 5 | 64 | F | c.2957A>T | p.(Asn986Ile) | c.2544dupG | p.(Leu849Alafs*3) | Yes | Reduced |
| 6 | 56 | M | c.1729delG | p.(Glu577Serfs*6) | c.1729delG | p.(Glu577Serfs*6) | Yes | Reduced |
| 7 | 71 | F | c.2676C>A | p.(Tyr892*) | c.2980G>T | p.(Glu994*) | Yes | Reduced |
| 8 | 68 | F | c.2957A>T | p.(Asn986Ile) | c.534+1G>A | Splice defect | No | Normal |
| 9 | 42 | M | c.2544dupG | p.(Leu849Alafs*3) | c.262C>T | p.(Gln88*) | No | Normal |
| 10 | 82 | M | c.2540G>A | p.(Gly847Glu) | c.346C>T | p.(Gln116*) | No | Normal |
| 11 | 59 | F | c.262C>T | p.(Gln88*) | c.664C>T | p.(Gln222*) | No | Normal |
| 12 | 67 | F | c.2258T>A | p.(Leu753*) | c.807G>C | p.(Gln269His) | No | Normal |
| 13 | 63 | F | c.413-1G>A | Splice defect | c.413-1G>A | Splice defect | No | Absent |
| 14 | 69 | F | c.952C>T | p.(Gln318*) | c.2957A>T | p.(Asn986Ile) | No | Normal |
| 15 | 64 | M | c.952C>T | p.(Gln318*) | c.2957A>T | p.(Asn986Ile) | No | Normal |
Patients 14 and 15 are siblings. The transcript ID for variant annotation is NM_001297.4. The following variants have not been previously reported in the context of CNGB1-associated retinitis pigmentosa (frequency in the gnomAD database, https://gnomad.broadinstitute.org, accessed 6 May 2019, of each allele is also given): p.(Gln116*), 4.02 × 10−6; p(.Glu577Serfs*6), not found in gnomAD; p.(Arg762His), 1.61 × 10−5; p.(Gly847Glu), 8.01 × 10−6; p.(Tyr892*), not found in gnomAD; p.(Glu994*), not found in gnomAD. All were predicted to be disease-causing (http://www.mutationtaster.org/, accessed 6 May 2019). c.534 + 1G>A affects a splice donor site, and has a frequency in gnomAD of 3.63 × 10−5. Exon 28–29 deletion is not found in gnomAD