Table 1.
Demographics and Genotype Summary
|
Subject |
Sex |
Age, y |
Variant 1 |
Variant 2 |
||
|
cDNA Change |
AA Change |
cDNA Change |
AA Change |
|||
| MM_0002* | F | 41 | 1443-1444insC | Ile482His fs*6 | 1706G>A | Arg569His |
| MM_0008* | F | 11 | 536T>A | Val179Asp | ND† | ND† |
| MM_0009* | F | 14 | 536T>A | Val179Asp | ND† | ND† |
| MM_0014* | F | 35 | 848G>A | Arg283Gln | 667C>T | Arg223Trp |
| MM_0015* | F | 28 | 848G>A | Arg283Gln | 667C>T | Arg223Trp |
| MM_0016* | M | 30 | 848G>A | Arg283Gln | 667C>T | Arg223Trp |
| MM_0064* | F | 23 | 1694C>T | Thr565Met | 661C>T | Arg221Ter |
| MM_0164* | F | 35 | 1641C>A | Phe547Leu | 1641C>A | Phe547Leu |
| MM_0165* | M | 13 | 1641C>A | Phe547Leu | 1641C>A | Phe547Leu |
| MM_0167* | F | 28 | 847C>T | Arg283Trp | 1279C>T | Arg427Cys |
| MM_0168* | M | 39 | 661C>T | Arg221Ter | 848G>A | Arg283Gln |
| MM_0169* | M | 14 | 485A>T | Asp162Val | 485A>T | Asp162Val |
| MM_0170* | M | 16 | 1642G>A | Gly548Arg | 67C>T | Arg23Ter |
| MM_0171* | M | 22 | 1001C>T | Ser334Phe | 1360A>T | Lys454Ter |
| MM_0239* | M | 37 | 848G>A | Arg283Gln | 667C>T | Arg223Trp |
| MM_0251* | F | 33 | 661C>T | Arg221Ter | 661C>T | Arg221Ter |
| MM_0358 | M | 10 | 1641C>A | Phe547Leu | 1641C>A | Phe547Leu |
| MM_0385 | M | 37 | 1228C>G | Arg410Trp | 1228C>G | Arg410Trp |
| MM_0386 | F | 22 | 1580T>G | Leu527Arg | 1805G>A | Gly602Glu |
| MM_0387 | M | 18 | 1580T>G | Leu527Arg | 1805G>A | Gly602Glu |
| MM_0396 | M | 27 | 1306C>T | Arg436Trp | 1279C>T | Arg427Cys |
| MM_0397 | M | 18 | 1306C>T | Arg436Trp | 1279C>T | Arg427Cys |
| MM_0398 | F | 14 | 811C>T | Pro271Ser | 829C>T | Arg277Cys |
| MM_0412 | M | 13 | 1286T>C | Val429Ala | 608G>A | Trp203Cys fs*29 |
| MM_0418 | M | 18 | 661C>T | Arg221Ter | 661C>T | Arg221Ter |
| MM_0445 | M | 10 | 1641C>A | Phe547Leu | 1641C>A | Phe547Leu |
| MM_0446* | F | 50 | 67C>T | Arg23Ter | 67C>T | Arg23Ter |
| JC_0578 | M | 32 | 1687C>T | Arg563Cys | 778G>A | Asp260Asn |
| JC_0615 | M | 43 | 1306C>T | Arg436Trp | 1306C>T | Arg436Trp |
| JC_0626 | F | 20 | 1641C>A | Phe547Leu | 1641C>A | Phe547Leu |
| JC_0674 | M | 46 | 985G>T | Gly329Cys | 985G>T | Gly329Cys |
| JC_0698 | M | 43 | 848G>A | Arg283Gln | 1228C>T | Arg410Trp |
| JC_1240* | F | 24 | 1351dupG | Val451Gly fs*3 | 1279C>T | Arg427Cys |
| JC_10008 | F | 12 | 829C>T | Arg277Cys | 1641C>A | Phe547Leu |
| JC_10069* | M | 18 | 847C>T | Arg283Trp | 542A>G | Tyr181Cys |
| KS_10088* | F | 64 | 450-1G>A | splice defect | 1557G>A | Met519Ile |
| KS_10337‡ | F | 17 | 940_942delATC | Ile314del | 1114C>T | Pro372Ser |
| JC_10551 | M | 10 | 1228C>T | Arg410Trp | 1319G>C | Trp440Ser |
In bold are the previously unreported sequence variants. ND, no data; F, female; M, male; AA, amino acid.
†
Only one variant identified. Phenotype consistent with CNGA3-ACHM. No variants found in CNGB3.
‡
Subject harbors an additional variant in CNGB3: c.473C>A: p.Pro158His.