Table 4 Homozygous pathogenic deletions (N = 17) detected by the QC array and/or CMA
Patient ID | Genomic intervals (hg19) | Chromosome bands | Size (Kb) | Disease genes | Exons deleted | Total exons | RefSeq# |
|---|---|---|---|---|---|---|---|
WH1 | chr2:31758677-31805700 | 2p23.1 | 47.023 | SRD5A2 | 3 | 6 | NM_000348.3 |
WH2* | chr2:110862477-110983703 | 2q13 | 121.226 | NPHP1 | 1 to 19 | 19 | NM_000272.2 |
WH3 | chr2:169824976-169830328 | 2q31.1 | 5.352 | ABCB11 | 13 to 17 | 28 | NM_003742.2 |
WH4* | chr5:140953993-140992629 | 5q31.3 | 38.636 | DIAPH1 | 2 to 15 | 28 | NM_005219.3 |
WH5,6, WD22 | chr15:43890409-43939659 | 15q15.3 | 49.25 | STRC | 1 to 29 | 29 | NM_153700.2 |
WH8*,9 | chr16:221962-228406 | 16p13.3 | 6.444 | HBA1; HBA2 | 1 to 3; 1 to 3 | 3; 3 | NM_000558.3;NM_000517.3 |
WH10 | chr16:1557663-1561126 | 16p13.3 | 3.463 | IFT140 | 31 | 31 | NM_014714.3 |
WH11* | chr16:78143268-78154701 | 16q23.1 | 11.433 | WWOX | 3 to 4 | 9 | NM_016373.1 |
WH12# | chr16:78409180-78431277 | 16q23.1-q23.2 | 22.097 | WWOX | 6 | 9 | NM_016373.1 |
WH13 | chr16: 78458774-78463512 | 16q23.1 | 4.738 | WWOX | 7 | 9 | NM_016373.1 |
WH14 | chr17:9489128-9489263 | 17p13.1 | 0.135 | CFAP52 | 2 | 14 | NM_145054.4 |
WC14* | chr19:55652193-55665240 | 19q13.42 | 13.047 | TNNT1; TNNI3 | 1 to 9; 8 | 14; 8 | NM_003283; NM_000363 |
WH15* | chr3:190039387-190040504 | 3q28 | 1.117 | CLDN1 | 1 | 4 | NM_021101.4 |
WH16* | chr16:15758011-15761384 | 16p13.11 | 3.373 | NDE1 | 3 to 4 | 10 | NM_001143979.1 |