Table 1.
Detected Mutations and Clinical Findings in Affected Individuals with NPHP1 Mutations
| Subject; Origin | NPHP1 Mutation (RefSeq NM_000272.3) | BBS Locus (Primary Causal Locus unless Indicated Otherwise) | Zebrafish Dataa | RP | Polydactyly | Obesity | Hypogonadism | Renal Anomalies | Developmental Delay |
|---|---|---|---|---|---|---|---|---|---|
| RC2-03; Latino | NPHP1: del; hom | BBS2b (RefSeq NM_031885.3): c.367A>G (p.Ile123Val); hom | hypomorph | yes | yes | no | yes | nephronophthisis | yes |
| AR704-03; N. European | NPHP1: del; het | BBS10c (RefSeq NM_024685.3): c.145C>T (p.Arg49Trp); het | null | yes | yes | yes | NA | no | yes |
| AR704-04; N. European | NPHP1: del; het | BBS10c (RefSeq NM_024685.3): c.145C>T (p.Arg49Trp); het | null | yes | yes | yes | NA | no | yes |
| 44/3; Israel | NPHP1: del; het | BBS7 (RefSeq NM_176824.2): c.87_88delCA (p.His29Glnfs∗12); hom | NA | yes | yes | yes | yes | born with one kidney; chronic renal failure; kidney transplantation | yes |
| 44/4; Israel | NPHP1: del; het | BBS7 (RefSeq NM_176824.2): c.87_88delCA (p.His29Glnfs∗12); hom | NA | yes | yes | yes | NA | no | yes |
| AR888-03; Latino | NPHP1: c.14G>T (p.Arg5Leu); het | BBS1 (RefSeq NM_024649.4): c.1645G>T (p.Glu549∗); het | NA | yes | yes | yes | ND | impaired renal function; kidney cysts; enlarged kidney | yes |
| BBS1d (RefSeq NM_024649.4): del exon1_11; het | NA | ||||||||
| RC1-03; Latino | NPHP1: c.14G>T (p.Arg5Leu); het | BBS10 (RefSeq NM_024685.3): c.926T>C (p.Leu309Pro); het | ND | yes | yes | yes | yes | no | yes |
| BBS10 (RefSeq NM_024685.3): c.9_14delTTCTAT (p.Ser3_Met5delinsArg); het | ND | ||||||||
| DM012-003; N. European | NPHP1: c.14G>T (p.Arg5Leu); het | BBS10 (RefSeq NM_024685.3): c.271dupT (Cys91Leufs∗5); hom | NA | yes | yes | yes | no | no | yes |
| R1-04; Latino | NPHP1: c.14G>T (p.Arg5Leu); het | BBS9 (RefSeq NM_198428.2): c.1536A>G [p.(=)]; hom | ND | yes | ND | ND | ND | ND | ND |
| R1-05; Latino | NPHP1: c.14G>T (p.Arg5Leu); het | BBS9 (RefSeq NM_198428.2): c.1536A>G [p.(=)]; hom | yes | ND | ND | ND | ND | ND | |
| AR082-03; Latino | NPHP1: c.14G>T (p.Arg5Leu); het | BBS9 (RefSeq NM_198428.2): c.1789C>T (p.Gln597∗); hom | NA | yes | ND | ND | ND | ND | ND |
Abbreviations are as follows: RP, retinitis pigmentosa; del, deletion; het, heterozygous; hom, homozygous; NA, not applicable (affected individual is female); ND, not determined.
a
Data from Zaghloul et al.26
b
Putative second-site modulator
c
Heterozygous change, unclear whether causal locus
d
Publicly available in dbVar (study ID: nstd93)