Genetic defects in ciliary genes in autosomal dominant polycystic kidney disease

Table 1 Summary of genes affected by pathogenic variants and localization of their coding proteins

Localization	Genes affected by pathogenic variants
Basal body	ODF2, AZI1, BBS12, BBS2, C21orf2, FLNA, LZTFL1, OFD1, PDYD7, TRAF3IP1
Centrosome	CEP89, HTT, CEP135, CEP290, MDM1, NINL, TRAPPC9
Centriole	PCM1, PIBF1, CBY1, FBF1, NEK1, SCLT1
Unspecific localization	STX3, PKD1L1, TTLL3, WDR60, CCDC35
Ciliary tip	KIF19, GLIS2
Intraflagellar transport	IFT172, IFT80
Transition zone	NUP37, NUP62
Regulatory proteins	RAB11FIP3, TRIP11
Ciliary membrane	CRB3
Ciliary root	CROCC
Axoneme	TMEM67

Table 2 Description of the most common pathogenic variants identified in autosomal dominant polycystic kidney disease samples

Gene	DNA-level	Protein-level	Exon	Number of samples with mutation
PCM1	c.3423dupC	p.Ser1142Glnfs*7	22	7
KIF19	c.49dupC	p.Arg17Profs*20	2	7
CEP89	c.412_413delAA	p.Lys138glyfs*16	4	5
HTT	c.108_110delGCA	p.Gln2643del	1	5
ODF2	c.1118delT	p.Leu373Tyrfs*80	10	5