NF1 mutations identified in the five families
| Family | NF1 genotype (NM_001042492.2) | Exon/intron | Effect of mutation | Previously identified in other families with NF1? |
|---|---|---|---|---|
| 1 | c.6427+2T>G | Intron 42 | Splice error: transcript demonstrated exclusion of exon 43 and subsequent frameshift | No |
| 2 | c.6056dup | Exon 41 | Frameshift mutation resulting in premature termination codon, p.(Thr1999Asnfs*10) | No |
| 3 | c.7146C>A | Exon 48 | p.(Phe2382Leu) missense substitution | No; segregation data not available |
| 4 | c.2002−3C>G | Intron 17 | Splice error: transcript demonstrated exclusion of exon 18 (r.2002_2251del) | No |
| 5 | c.2543G>A | Exon 21 | p.(Gly848Glu) missense substitution | Yes14 ; spinal phenotype also reported with p.(Gly848Arg)15 |