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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
  1. aCNV resides in a region typically amplified in cat eye syndrome, but karyotype analysis detected no supernumerary marker chromosome; bCNVs not confirmed (n. c.) due to their partial overlap with segmental duplications