Table 1

 Summary of clinical features for JS subjects with AHI1 and NPHP1 mutations*

Pedi-greeEthnicitySequence change†Protein change‡/effectCon-sangAge§SexCNS¶Eye move-mentsRet-inaRespir-atoryRenalOther**
*+, present; −, absent; ASD, atrial septal defect; CC, corpus callosum; CNS, central nervous system involvement; Consang, consanguinity; DM, diabetes mellitus; Ex, exon; F, female; GR, growth retardation; hydroneph, hydronephrosis; IVS, intron; M, male; MCDK, multicystic dysplastic kidney; Mirror mvts, mirror movements; MTS, molar tooth sign on MRI; OMA, oculomotor apraxia; NA, information not available; NPH, nephronophthisis; Nys, nystagmus; PMG, polymicrogyria; RD, retinal dystrophy; sz, seizures; Tachy, tachypnea
†DNA mRNA sequences are numbered starting from the A of the ATG initiator codon (nucleotide +1); exons (Ex) are numbered by convention of the Ensembl assembly for GenBank accession number AJ459824.
‡Proteins are numbered starting from the initiator methionine codon 1.
§Age in years when last ascertained; aff, affected.
¶Note that all subjects had hypotonia, ataxia, and mental retardation or developmental delay, which was milder in those with NPHP1 deletions.
**Other includes polydactyly, hepatic fibrosis, occipital encephaloceles, and ocular coloboma.
††Family compatible with linkage to 6q23 by haplotype analysis.
‡‡Unable to confirm MTS but early studies showed cerebellar vermis hypoplasia prior to description of MTS.
§§Molar tooth has distinctive appearance with elongated but not thickened superior cerebellar peduncles.
New AHI1 mutations
K8062CaucasianEx 6: 517 A>TK246XNo18FMTSOMA,RDLeftDM
Ex 18: 1995 T>GL832XnysMCDK
K8090CaucasianEx 6: 662 C>GS221XNo4MMTSRDTachy
Ex 13: 1898 ins GGfsX648
K8067CaucasianIVS8 (−2 A>G)PresumedNo6FMTSOMA,RDApnea
splice errornys
Ex 9: 1260 G>AW420X
K8019††CaucasianEx 9: 1267 C>TQ423XYes5FMTS‡‡NA“PoorTachy
K8052††ArmenianEx 9: 1267 C>TQ423XYes21MMTSNysRDTachy
K8075CaucasianEx 9: 1267 C>TQ423XNo5MMTSOMA, nysRDTachy
Ex 15: 2212 C>TR738X
K8107TurkishIVS11 (+5 insPresumedYes26/9M/FNA/MTSNA/NARD/−+/NACysts/−−/−
TTAC) homozygoussplice error
K8012††IcelandicIVS14 (+1 G>T)PresumedYes30/26F/MMTS/MTSNys/nysRD/RDTachy/NPH/−/−
homozygoussplice errortachyNPH,
K8103††SaudiEx 15: 2156 A>GD719GYes4/3M/MMTS/MTSNys/nysRD/NATachy/−Left hydro-−/−
K8018CaucasianEx 15: 2452 T>CW725RNo10FMTSOMA, nysRD
K8127TurkishEx 14: 1917 T>AY639XYes4FMTSNysRDTachy
K8131TurkishEx 14: 2012 C>TT671IYes8FMTSNysRDNA
K8134TurkishEx 19: 2687 A>GH896RYes9/2F/MMTS/MTSNys/nys−/−−/−−/−−/−
Totals8/132–30 years9F/8M12/139/1011/128/123/130/13
Published AHI1 mutations
MTI-01010PalestinianEx 7: 787 ins CfsX270Yes1 aff childMMTSOMANA+
MTI-11510KuwaitiEx 9: 1188-9 del TGfsX408Yes2 affM/FMTS, PMG,OMARD/RD
homozygousthin CC
MTI-14410TurkishEx 9: 1328 T>AV443DYes1 affFMTS, PMG,OMANA+NAASD
homozygousthin CC
Pedigree 39SaudiEx 9: 1328 T>AV443DYes1 affMMTSNANANANA
Pedigree 19SaudiEx 8: 1051 C>TR351XYes3 aff3MMTSOMA,NANANAMirror
Pedigree 29SaudiEx 9: 1303 C>TR435XYes2M/MMTSOMANANANAMirror
Arabianhomozygouschildrenor nysmvts
Family 129TurkishNot identifiedNotYes5 aff3F/2MMTSNys in 1RD in 1NAGR,
(17–28)osis, sz
Family 229SwissNot identifiedNotYes2 affF/FMTSNys in 1RD in 1+
(2, 23)
Published NPHP1 mutations
K807611CaucasianHomozygousNo proteinNo12/8F/FMTS§§/NAOMA/−/−−/−NPH/−−/−
K808411CaucasianHomozygousNo proteinNo17MMTS§§NPH
Patient EC12ItalianHomozygousNo proteinNo3FMTS§§OMARDNPH