Table 2 Potential disease causing CNVs observed in 169 BEEC patients
From: CNV analysis in 169 patients with bladder exstrophy-epispadias complex
Chromosomal band | Position [hg19] | Size [Mb] | Pat | Sex | Phenotype | Aberration | RefSeq genes | Inheritance | Frequency in inhouse controls |
|---|---|---|---|---|---|---|---|---|---|
CNVs found in regions not previously associated with BEEC | |||||||||
4q26 | 4:117,047,226-118,043,617 | 1.00 | 5 | male | E | duplication | TRAM1L1, MIR1973 | paternal | 0 |
5q22.2 | 5:111,778,778-112,842,992 | 1.06 | 6 | female | CBE | duplication | 7 genes, see Results | paternal | 0 |
13q33.1-q33.2 | 13:104,746,408-106,422,213 | 1.68 | 11 | male | CBE | deletion | DAOA, DAOA-AS1, LINC00343 | maternal | 0 |
Xq11.1-q13.1 | X:62,038,249-68,117,977 | 6.08 | 17 | female | CBE | duplication | 43 genes (e.g. EFNB1) | paternal | 0 |
22q11.1a | 22:16,114,244-17,294,251 | 1.18 | 14 | female | CBE | duplication | 10 genes, see Results | n. c. | 0.0022b |
Xp22.31 | X:6,430,651-8,135,053 | 1.70 | 15 | female | CBE | duplication | 7 genes, see Results | maternal | 0.0008b |
Xp22.31 | X:6,436,087-8,135,053 | 1.70 | 16 | female | CBE | duplication | 7 genes, see Results | paternal | 0.0008b |
CNVs in regions previously associated with BEEC | |||||||||
1p36.33 | 1:1,385,211-1,425,700 | 0.04 | 19 | male | CBE | deletion | ATAD3B, ATAD3C | paternal | 0 |
1p36.33 | 1:1,385,211-1,425,700 | 0.04 | 20 | female | CBE | deletion | ATAD3B, ATAD3C | maternal | 0 |
1p36.33 | 1:1,415,012-1,447,325 | 0.03 | 21 | male | E | deletion | ATAD3B | n. c. | 0.0008 |
1q41 | 1:216,277,327-216,431,962 | 0.16 | 2 | male | CBE | deletion | USH2A | maternal | 0 |
9q34.2 | 9:136,128,546-136,133,506 | 0.01 | 9 | female | CBE | deletion | ABO | maternal | 0 |
19q13.42 | 19:53,932,295-54,010,277 | 0.08 | 22 | female | CBE | deletion | ZNF761, ZNF813, TPM3P9 | n. c. | 0.0015 |