International Journal of Nephrology / 2011 / Article / Tab 1

Review Article

Nephronophthisis: A Genetically Diverse Ciliopathy

Table 1

Mutated genes in nephronophthisis and associated extrarenal manifestations.

LocusGeneChromosomeProteinMutation frequency [20]Extrarenal featuresRef.

NPHP1NPHP12q13Nephrocystin-123%SLS, JS,[23, 24]
NPHP2INV9q31Inversin1-2%SLS, HF VSD, situs inversus[25]
NPHP3NPHP33q22.1Nephrocystin-3<1%SLS, HF, MKS, situs inversus[26]
NPHP4NPHP41p36.22Nephrocystin-4 or nephroretinin2-3%SLS[27, 28]
NPHP5IQCB13q21.1Nephrocystin-5 or IQ motif containing B13-4%SLS[29]
NPHP6CEP29012q21.32Centrosomal protein 2901%LCA, SLS, JS, MKS, BBS[30]
NPHP7GLIS216p13.3GLI similar 2<0.5%[31]
NPHP8RPGRIP1L16q12.2RPGRIP1-like0.5%SLS, JS, MKS[32]
NPHP9NEK817q11.1NIMA-related kinase 8<0.5%SLS[33]
NPHP10SDCCAG81q44Serologically defined colon cancer antigen 8<0.5%SLS, BBS-like[21]
NPHP11TMEM678q22.1Transmembrane protein 67<0.5%JS, HF, MKS[34]
NPHPL1XPNPEP322q13X-prolyl aminopeptidase 3<0.5%cardiomyopathy, seizures[35]
TTC21B2q24.3Intraflagellar transport protein 139<1%JS, MKS, BBS, JATD[22]

BBS: Bardet-Biedl syndrome; HF: hepatic fibrosis; JATD: Jeune asphyxiating thoracic dystrophy; JS: Joubert syndrome; LCA: Leber’s congenital amaurosis; MKS: Meckel-Gruber syndrome; SLS: Senior-Loken syndrome; VSD: ventricular septal defect.

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