Table 1

Mutations of IFT81 and PPT1 in two families with a ciliopathy phenotype

Family-individual/ageGeneNucleotide alteration†Deduced protein changeExon/intron (zygosity)Parental consanguinityRenal disease (age of onset)Eye disease (age of onset)Additional clinical features
A3286-21/5 yearIFT81c.1188+1G>A5′ splice site11 (Hom)
m: het/p: ND
YesNPHP (1.5 year)NoneSpeech delay with mild intellectual disability, polydactyly (feet)
NCK-033/9.5 yearIFT81c.2015_2019delp.Asp672Alafs*1520 (Hom)
m: het/p: het
YesPolyuria/Polydipsia (9.5 year)RD (4 year)Speech delay with mild intellectual disability, cerebellar atrophy
PPT1c.733G>Ap.Gly245Arg8 (Hom)
m: het/p: het
  • †cDNA mutations are numbered according to human cDNA reference sequence NM_014055.3, isoform 1 (IFT81) and NM_000310.3, isoform 1 (PPT1), where +1 corresponds to the A of ATG start translation codon.

  • het, heterozygous; Hom, homozygous; IFT, intraflagellar transport; m, maternal; ND, no data; NPHP, nephronophthisis; p, paternal; RD, retinal dystrophy.