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Table 4 Homozygous pathogenic deletions (N = 17) detected by the QC array and/or CMA

From: Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases

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
  1. *The deletions were detected by CMA performed at BG. All these 17 deletions were detected by the QC array except for WH15 and WH16. The genomic intervals were based on CMA data when available
  2. #WH12 had compound heterozygous overlapping deletions