Table 5 Identification of genes associated with kidney anomaly
Gene | Corresponding CNV | Reported kidney anomalies in previous studies | Expressed in the developing mouse kidney | Renal phenotype in mouse | Expressed in the human kidney or cell lines | Involved in protein–protein interaction network with known CAKUT-associated genes | Association with kidney anomaly | |
|---|---|---|---|---|---|---|---|---|
Chromosomal region | Type | |||||||
HNF1B | 17q12 | del | + | + | + | + | + | Known |
TBX1, CRKL | 22q11.21 | del | + | + | – | + | + | Known |
CREBBP | 16p13.3 | del | + | + | – | + | + | Novel |
SHANK3 | 22q13.31q13.33 | del | + | + | – | + | – | Novel |
ARL6 | 3q11.2 | dup | + | – | – | + | + | Known |
PMP22 | 17p12 | dup | – | – | – | + | – | Novel |
TBX18 | 6q14.2q15 | del | + | + | + | + | + | Known |
MYH11 | 16p13.11 | dup | + | + | + | + | + | Novel |
NIPA1 | 15q11.2 | del | – | + | – | + | – | Novel |
CASK | Xp11.4 | del | + | + | – | + | – | Novel |