Summary of atypical deletions detected using the NF1 locus microarray
| Patient ID | Clinical phenotype | Previous deletion analysis | Array-CGH results | Size | Ref | Source |
|---|---|---|---|---|---|---|
| *ASB4 is a somatic cell hybrid containing monosomy 17; †sample not blinded; ‡deletion with PACs 962N3 and 984G23, but not with 409L16. Centromeric breakpoint is in 100 kb fragment proximal to the NF1 gene and telomeric breakpoint is further than 984G23. 984G23 is located distal to the telomeric NF1REP and is 800 kb telomeric from the NF1 gene. | ||||||
| CAL, café au lait spots; CNF, cutaneous neurofibroma; DD, developmental delay; DF, dysmorphic features; F, freckling; FISH, fluorescence in situ hybridisation; LOH, loss of heterozygosity; LN, Lisch nodules; MLPA, multiplex ligation-dependent probe amplification; MPNST, malignant peripheral nerve sheath tumours; MR, mental retardation; NF, neurofibromas; NFD, Noonan facial dysmorphism; NS, not studied previously; PD, pyschomotor delay; PNF, plexiform neurofibroma; RFLP, restriction fragment length polymorphism; RT-PCR, real time PCR; SOG, symptomatic optic glioma; TMDP, typical microdeletion phenotype; UDE, unilateral deafness and epilepsy; UTR, untranslated region. | ||||||
| 806† | CAL, F, DF, DD | 7 cM deletion | All data points | >2.2 Mb | 22 | Cardiff, UK |
| on the array | ||||||
| T165 | CAL, F, NFs, MPNST-pelvic | LOH identified by RFLP | All data points | >2.2 Mb | Cardiff, UK | |
| metastases | on the array | |||||
| 282775 | No NFs, uncountable CALs, NFD, | FISH: deletion of NF1 gene | 80p–end of array | >1.33 Mb | Leuven, | |
| PD, language disorder | probes‡ | Belgium | ||||
| T145 | CAL, F, NFs, MPNST, PNF, | LOH identified by RFLP | 21p–155p | 1.61–1.75 Mb | Cardiff, UK | |
| epilepsy | ||||||
| ASB4* | Mild phenotype, 1 CAL, NF, LN, | One breakpoint in intron 8 of | 45p–144p | 1.07 Mb | Leuven, | |
| mosaicism for deletion in blood | JJAZ1 pseudogene, other | Belgium | ||||
| breakpoint probably around | ||||||
| position 148000 of | ||||||
| AC007923 | ||||||
| NF1_619 | NF, facial DF, severe MR, | Deleted (size unknown); | Two deletions | 875 kb and | 16 | Hamburg, |
| cerebral astrocytoma | microsatellite markers | (45p–121p | >920 kb | Germany | ||
| and FISH | and 138–end) | |||||
| F538 | CAL, F, subCNFs | Intron 1 to intron 56; | 80p–113p (intron | 223 kb | Birmingham, | |
| long range RT-PCR and MLPA | 1 to intron 56) | AL, USA | ||||
| 119688 | Classical NF1 but not TMDP, | Intron 1 to intron 56; | 80p–113p (intron | 223 kb | 6 | Leuven, |
| UDE, no CNFs at age 18, IQ: 77 | breakpoints are known | 1 to intron 56) | Belgium | |||
| 193 | CAL, F, LN, NF, scoliosis, | 90 kb deletion | 88p–96p (intron | 93 kb | 31 | Cardiff, UK |
| above average intelligence, | 8 to intron 35) | |||||
| NFs in the gum | ||||||
| 2338 | Clinical data not available | NS | 80p–89p (intron | 66.4 kb | Cardiff, UK | |
| 1 to intron 11) | ||||||
| 162 | CAL, F, LN, NF | 50 kb deletion | 80p–83p (intron | 25.8 kb | Cardiff, UK | |
| 1 to intron 4) | ||||||
| F548 | 4 year old with CAL, F, mild | Intron 5 to intron 8; | 88p (intron 7 | 7.1 kb | Birmingham, | |
| scoliosis, coarse facies, SOG | long range RT-PCR and MLPA | to intron 8) | AL, USA | |||
| F486 | 6 year old with CAL, F, | Negative by long range RT-PCR, | 74p (5′ UTR | 6 kb | Birmingham, | |
| subCNFs, PNF | exon 1 deletion by MLPA | of exon 1) | AL, USA | |||