TABLE 2.
Summary of All PRKAR1A Mutations Identified in This Study, Correlation with 17q CN Status and Comparison to PRKAR1A Mutation Database (http://prkar1a.nichd.nih.gov)
| SCH # | PRKAR1A Exon | PRKAR1A cDNA | Effect of the mutation | Sanger confirmation | Reported in PRKAR1A mutation database | 17q Status by SNP-array | Both Alleles of PRKAR1A Inactivated |
|---|---|---|---|---|---|---|---|
| SCH1 | 5 | c.441-3C>A | Likely alters the splice acceptor site | NA | No | monosomy 17 | Yes |
| SCH2 | 6 | c.535C>T | p.Q179X | NA | No | CN-LOH 17q | Yes |
| SCH3 | 3 | c.286C>T | p.R96X | Confirmed | Yes | trisomy of 17q21.3-25.3-LOH (UPT) | Yes |
| SCH4 | 8 | c.761_762delCT | p.S254Yfs×15 | Confirmed | No | CN-LOH 17q | Yes |
| SCH5 | 2 | c.124C>T | p.R42X | Confirmed | Yes | Monosomy 17 | Yes |
| SCH6 | 11 | c.1039T>C | p.C347R | Confirmed | No | Monosomy 17 | Yes |
| SCH7 | 2 | c.124C>T | p.R42X | Confirmed | Yes | Normal | Yes |
| 7 | c.708+1G>C | exon 7 skipped (shorter PRKAR1A protein) | Confirmed | Yes | |||
| SCH8 | 5 | c.441-1G>C | Alters the splice acceptor site | Confirmed | No | Normal | Yes |
| 5 | c.496C>T | p.Q166X | Confirmed | Yes | |||
| SCH9 | 9 | c.851dupT | p.Q285Afs×7 | NA | No | Monosomy 17 | Yes |
| SCH10 | 4 | c.380_402del23 | p.A127Efs×8 | Confirmed | No | Monosomy 17 | Yes |
| SCH11 | 10 | c.944delT | p.V315Gfs×16 | Confirmed | No | Normal | No |
| SCH12 | 8 | c.750_761delinsG | p.S251Yfs×15 | Confirmed | No | CN-LOH of 17 | Yes |
NA: not available, confirmatory Sanger sequencing could not be performed due to sample insufficiency CN-LOH, copy neutral-loss of heterozygosity; UPT, uniparental trisomy.