Erratum to: Pediatr Nephrol
DOI 10.1007/s00467-007-0479-1
Table 2 shows some of the principal human malformation syndromes with kidney hypoplasia/dysplasia. The branchio-oto-renal syndrome is caused by mutations of EYA1, SIX1 or SIX5 genes and not SIX2. We apologize for the mistake in the article.
Table 2.
List of human malformation syndromes with kidney hypoplasia/dysplasia (MCDK multicystic dysplastic kidney, VUR vesicoureteral reflux)
| Gene | Human syndrome | Kidney phenotype | OMIM |
|---|---|---|---|
| JAG1, NOTCH2 | Alagille syndrome | MCDK, kidney dysplasia, kidney mesangiolipidosis | #118450, #610205 |
| BBS1-BBS11 | Bardet-Biedl syndrome | Renal dysplasia and calyceal malformations | #209900 |
| EYA1, SIX1, SIX5 | Branchio-oto-renal syndrome | Renal agenesis/dysplasia | #113650 |
| SOX9 | Campomelic dysplasia | Diverse renal malformations | #114290 |
| CHD7 | CHARGE syndrome | Diverse urinary tract malformations | #214800 |
| Del. 22q11 | Di George syndrome | Renal agenesis, dysplasia, VUR | #188400 |
| GATA3 | Hypothyroidism, sensorial deafness, renal anomalies (HDR) | Renal agenesis, dysplasia, VUR | #146255 |
| DNA repair | Fanconi anemia | Renal agenesis | #227650 |
| FRAS1, FREM2 | Fraser syndrome | Renal agenesis, dysplasia | #219000 |
| KALL1, FGFR1 | Kallman’s syndrome | Renal agenesis, dysplasia | #308700, #147950 |
| PAX2 | Renal coloboma syndrome | Renal hypoplasia, MCDK, VUR | #120330 |
| TCF2 | Renal cysts and diabetes syndrome | Renal dysplasia, cysts | #137920 |
| GPC3 | Simpsom-Golabi-Behmel syndrome | Renal dysplasia, cysts | #300209 |
| DHCR7 | Smith-Lemli-Opitz Syndrome | Renal dysplasia, cysts | #270400 |
| SALL1 | Townes-Brocks Syndrome | Renal dysplasia, lower urinary tract malformations | #107480 |
| LMX1B | Nail-patella syndrome | Glomerulus malformation, renal agenesis | #161200 |
| NIPBL | Cornelia de Lange syndrome | Renal dysplasia | #122470 |
| CREBBP | Rubinstein-Taybi syndrome | Renal agenesis | #180849 |
| WNT4 | Rokitansky syndrome | Renal agenesis | #277000 |
| PEX-family | Zellweger syndrome | Renal dysplasia, cysts | #214100 |
| GLI3 | Pallister-Hall syndrome | Renal agenesis, dysplasia | #146510 |
| p57(KIP2) | Beckwith-Wiedemann syndrome | Renal dysplasia | #130650 |
| SALL4 | Okihiro syndrome | Renal ectopia with or without fusion, lower urinary tract malformations | #607323 |
| TBX3 | Ulnar-mammary syndrome | Renal agenesis | #181450 |
Footnotes
The online version of the original article can be found at dx.doi.org/10.1007/s00467-007-0479-1.