Table 1

Number of plexiform neurofibromas (PNF), tumour volume and genotype of SNP rs2151280 in 29 patients with non-mosaic NF1 microdeletions
Patient Age (years) Sex Total tumour volume (ml) Relative tumour volume (ml/kga) Number of PNFb Extent (type) ofNF1microdeletion Genotype of rs2151280
682 53 female 0 0 0 1.4-Mb (1)c C/T
1058 4 female 0 0 0 1.4-Mb (1)c C/T
748 21 female 0 0 0 1.4-Mb (1)c C/C
876 15 female 0 0 0 1.4-Mb (1)c T/T
975 11 male 0 0 0 1.4-Mb (1)c C/C
991 18 male 0 0 0 1.4-Mb (1)c C/T
807 18 female 0 0 0 1.4-Mb (1)c C/C
284 14 female 0 0 0 1.4-Mb (1)c C/T
1053 28 female 1889 30.5 1 1.4-Mb (1)c C/C
272 16 female 258 4.8 1 3-Mb (atypical)d C/C
321 23 male 54 0.6 1 1.4-Mb (1)c C/C
793 45 male 39 0.43 1 1.4-Mb (1)c C/C
82 20 female 28 0.35 1 2.7-Mb (atypical)e T/T
515 39 female 13 0.15 1 1.4-Mb (1)c C/T
978 9 female 10 0.33 1 1.4-Mb (1)c C/T
917 31 female 8 0.12 1 1.4-Mb (1)c C/C
283 40 female 463 6.4 2 1.4-Mb (1)c C/T
726 28 female 215 2.05 2 1.4-Mb (1)c T/T
941 15 male 20 0.28 2 1.4-Mb (1)c C/T
463 26 male 5677 77.8 3 2-Mb (atypical)f C/T
1056 38 male 4986 59.4 3 1.4-Mb (1)c C/T
928 28 female 468 9.0 3 1.3-Mb (atypical)g C/T
714 26 female 321 5.35 3 1.4-Mb (1)c C/C
579 17 male 8018 114.5 4 1.4-Mb (1)c C/T
1057 17 male 3896 62.8 4 1.2-Mb (2)h C/T
33 24 male 724 9.3 4 1.4-Mb (1)c C/C
857 3 female 656 29.8 4 1.4-Mb (1)c C/T
866 16 female 669 10.6 5 1.4-Mb (1)c C/T
1059 22 male 247 3.43 5 1.4-Mb (1)c C/T

a: Tumour volume relative to body weight of the patient on the MRI scan date.

b: The plexiform neurofibromas (PNF) counted were > 3 cm in diameter.

c: as reported in [16], d: as reported in [17], e: published in [18]; f: published in [19]; g: as published in [20]; h: as published in [21].

Mußotter et al.

Mußotter et al. BMC Medical Genetics 2012 13:98   doi:10.1186/1471-2350-13-98

Open Data