Table 2.

Genotype-phenotype correlation of 89 children in the Nephronophthisis Registry carrying mutations in various ciliary genes

GenotypeSenior LøkenJoubertCOACHCOMAJeune/MSSCKDAge at ESRD, yr (1)Liver InvolvementOcular InvolvementCNS InvolvementAirways InvolvementSkeletal Involvement
NPHP1, n=607589811.4±2.4 (n=43)8412582
NPHP3, n=41000.7; 4; 8; 10 (n=4)1002550
NPHP4, n=510014 (n=1)20
NPHP5/IQCB1, n=510010014; 16; 16; 27 (n=4)10020
NPHP6/CEP290, n=5100607; 21 (n=2)10010040
NPHP11/TMEM67, n=6333317673; 6; 8; 18 (n=4)1008383
IFT140, n=41001007; 10 (n=2)2510025100
  • Cell contents are the percentages of participants in a given row (genotype) for which the phenotype listed in the column header was observed or the ages (as means±SD or lists of individual ages) at which ESRD developed. COACH, cerebellar vermis hypoplasia, oligophrenia, ataxia, coloboma, hepatic fibrosis; COMA, congenital oculomotor apraxia; MSS, Mainzer–Saldino syndrome; CNS, central nervous system; —, 0% of patients.