Nephronophthisis: A Genetically Diverse Ciliopathy

Table 1

Mutated genes in nephronophthisis and associated extrarenal manifestations.

Locus	Gene	Chromosome	Protein	Mutation frequency [20]	Extrarenal features	Ref.
NPHP1	NPHP1	2q13	Nephrocystin-1	23%	SLS, JS,	[23, 24]
NPHP2	INV	9q31	Inversin	1-2%	SLS, HF VSD, situs inversus	[25]
NPHP3	NPHP3	3q22.1	Nephrocystin-3	<1%	SLS, HF, MKS, situs inversus	[26]
NPHP4	NPHP4	1p36.22	Nephrocystin-4 or nephroretinin	2-3%	SLS	[27, 28]
NPHP5	IQCB1	3q21.1	Nephrocystin-5 or IQ motif containing B1	3-4%	SLS	[29]
NPHP6	CEP290	12q21.32	Centrosomal protein 290	1%	LCA, SLS, JS, MKS, BBS	[30]
NPHP7	GLIS2	16p13.3	GLI similar 2	<0.5%		[31]
NPHP8	RPGRIP1L	16q12.2	RPGRIP1-like	0.5%	SLS, JS, MKS	[32]
NPHP9	NEK8	17q11.1	NIMA-related kinase 8	<0.5%	SLS	[33]
NPHP10	SDCCAG8	1q44	Serologically defined colon cancer antigen 8	<0.5%	SLS, BBS-like	[21]
NPHP11	TMEM67	8q22.1	Transmembrane protein 67	<0.5%	JS, HF, MKS	[34]
NPHPL1	XPNPEP3	22q13	X-prolyl aminopeptidase 3	<0.5%	cardiomyopathy, seizures	[35]
	TTC21B	2q24.3	Intraflagellar 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.