SUPPLEMENTAL MATERIAL

Supplemental Table 1

RefSeq genes and non-coding (nc) RNAs within the critical interval on 10q26 between flanking markers D10S1757 (122,324,738 bp) and D10S1782 (129,086,934 bp). The sequences were downloaded through the human genome data resource Ensembl (build 37/hg19 assembly)

Sequence contigs / Start position (bp) / End position (bp)
Gene
1. PPAPDC1A / 122,216,466 / 122,349,367
2. C10orf85 / 122,357,721 / 122,359,629
3. WDR11 / 122,610,695 / 122,669,036
4. FGFR2 / 123,237,848 / 123,357,972
5. ATE1 / 123,499,939 / 123,688,316
6. NSMCE4A / 123,716,603 / 123,734,732
7. TACC2 / 123,748,689 / 124,014,060
8. BTBD16 / 124,030,821 / 124,097,677
9. PLEKHA1 / 124,134,173 / 124,191,867
10. ARMS2 / 124,214,169 / 124,216,868
11. HTRA1 / 124,221,041 / 124,274,424
12. DMBT1 / 124,320,181 / 124,403,252
13. C10orf120 / 124,457,225 / 124,459,338
14. CUZD1 / 124,591,665 / 124,639,146
15. FAM24B / 124,608,594 / 124,639,157
16. FAM24A / 124,670,217 / 124,672,627
17. C10orf88 / 124,690,419 / 124,713,919
18. PSTK / 124,713,897 / 124,757,029
19. IKZF5 / 124,750,322 / 124,768,333
20. ACADSB / 124,768,495 / 124,817,827
21. HMX3 / 124,895,478 / 124,899,995
22. HMX2 / 124,907,638 / 124,910,188
23. BUB3 / 124,913,793 / 124,924,886
24. GPR26 / 125,425,871 / 125,454,123
25. CPXM2 / 125,465,729 / 125,699,783
26. CHST15 / 125,767,184 / 125,853,206
27. OAT / 126,085,872 / 126,107,545
28. NKX1-2 / 126,135,592 / 126,138,753
29. LHPP / 126,150,403 / 126,306,457
30. FAM53B / 126,307,861 / 126,432,838
31. METTL10 / 126,436,721 / 126,480,446
32. FAM175B / 126,490,354 / 126,525,239
33. ZRANB1 / 126,630,692 / 126,676,758
34. CTBP2 / 126,676,421 / 126,849,739
35. C10orf122 / 127,265,091 / 127,371,713
36. C10orf137 / 127,408,084 / 127,452,712
37. AL158835.1 / 127,445,352 / 127,445,665
38. MMP21 / 127,455,022 / 127,464,390
39. UROS / 127,477,146 / 127,511,817
40. BCCIP / 127,512,115 / 127,542,264
41. DHX32 / 127,524,906 / 127,585,005
42. FANK1 / 127,585,108 / 127,698,161
43. ADAM12 / 127,700,950 / 128,077,024
44. C10orf90 / 128,113,566 / 128,359,079
45. DOCK1 / 128,593,978 / 129,250,781
46. FAM196A / 128,933,694 / 128,994,422
ncRNA
1. 7SK / 123,170,430 / 123,170,714
2. Y_RNA / 123,606,115 / 123,606,215
3. U6 / 124,105,205 / 124,105,308
4. AC009987.1 / 125,494,301 / 125,494,372
5. AC068058.1 / 125,670,995 / 125,671,077
6. Y_RNA / 126,454,765 / 126,454,866
7. Y_RNA / 126,503,527 / 126,503,631
8. AL360176.1 / 127,531,513 / 127,531,598
9. U2 / 127,579,135 / 127,579,247
10. RN5S328 / 127,834,043 / 127,834,151
11. AL583860.1 / 128,245,532 / 128,245,633
12. SNORD60 / 128,468,271 / 128,468,343
13. Y_RNA / 128,609,376 / 128,609,472

Supplemental Figure 1

(a) Array-CGH profile of the whole genome tiling array; (b)Chromosome 10tiling array; the critical interval on chromosome 10q26 (122,324,738-129,086,934 bp)is boxed in blue. The positions of the probes were established using UCSC human genome database, human genome Build 36 / hg18. DNA sample from an affected individual was compared to an unaffected family member used as reference DNA. DNA labeling, hybridization, washing, microarray scanning and data analysis were done according to the manufacturer recommended protocol. Fluorescence intensity raw data were obtained from scanned images of the oligonucleotide tiling arrays by using NIMBLESCAN extraction software (NimbleGen Systems). For each spot on the arrays, log2intensity ratios show the correspondenceof the Cy3-labeled test sample versus Cy5-labeled reference sample. Fluorescence intensity normalization was performed by using the segMNT algorithm available in NIMBLESCAN. The genomic profile was visualized with SignalMap software (SignalMap v1.9, NimbleGen Systems).

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