TABLE 2
FROM:
Somatic Mutation Analysis in NF1 Café au lait Spots Reveals Two NF1 Hits in the Melanocytes
Sofie De Schepper, Ophélia Maertens, Tom Callens, Jean-Marie Naeyaert, Jo Lambert and Ludwine Messiaen
BACK TO ARTICLETable 2. Summary of demographic patient data and results
| NF1 patients | Sex and age (years) | Cell types cultured | Results LOH | Results LR RT–PCR/direct sequencing | ||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Alu | IVS 38GT 53.0 | IVS 27 TG 24.8 | IVS 27 AC 33.1 | 3'NF1-1 | 3'NF1-3 | Germline mutation | Second hit mutation | |||
| NF-002 | Male (53) | FB | NI | H | H | H | NI | H | c.1721+1G>A (skipping exon 11) | None |
| NF-003 | Male (48) | FB | NI | H | H | H | H | NI | c.3709-??_3974+?? del (Deletion E22 &23.1) | None |
| NF-004 | Female (37) | FB | NI | H | NI | NI | H | NI | c.2851-2A>G (skipping exon 17) | None |
| NF-006 | Female (25) | KC | NI | H | NI | H | H | NI | c.4368-2A>G (skipping first 115 bp from E26) | None |
| NF-007 | Male (19) | FB | H | H | H | H | H | NI | c.3113+1G>A (skipping E18) | None |
| NF-001 | Female (36) | KC | NI | NI | NI | H | H | NI | c.2887C>T (p.Q963X) | None |
| NF-012 | Female (49) | MC | NI | H | H | H | H | H | c.1541_1542delAG | c.3721C>T (p.R1241X) |
| KC | NI | H | H | H | H | H | c.1541_1542delAG | None | ||
| FB | NI | H | H | H | H | H | c.1541_1542delAG | None | ||
| NF-005 | Female (46) | FB | NI | H | H | H | NI | H | c.5122_5123 insG | None |
| NF-008 | Female (49) | FB | c.3525_3526delAA | None | ||||||
| MC | c.3525_3526delAA | c.2269A>T (p.K757X) | ||||||||
| NF-010 | Female (35) | FB | NI | H | NI | NI | H | NI | c.2681T>C (p.F894S) | None |
| NF-011 | Male (62) | MC | NI | H | NI | NI | H | NI | c.2681T>C (p.F894S) | Loss of expression of the WT allele; WT allele is present at the gDNA level |
| FB | NI | H | NI | NI | H | NI | c.2681T>C (p.F894S) | None | ||
| NF-013 | Female (22) | MC | H | H | H | H | H | H | c.4537C>T (p.R1513X) | c.1721+542 A>G (splice mutation, leads to insertion of 176 bp from intron 11 in the transcript) |
| FB | H | H | H | H | H | H | c.4537C>T (p.R1513X) | None | ||
| NF-014 | Female (39) | MC | NI | NI | NI | NI | NI | NI | c.2492_2493delCA | c.4537C>T (p.R1513X) |
| FB | NI | NI | NI | Ni | Ni | Ni | c.2492_2493delCA | None | ||
FB, fibroblasts; H, heterozygous; KC, keratinocytes; LR, long range; MC, melanocytes; NF1, neurofibromatosis type 1; NI, not informative; RT–PCR, reverse transcription–PCR.
