Mutations of IFT81 and PPT1 in two families with a ciliopathy phenotype
| Family-individual/age | Gene | Nucleotide alteration† | Deduced protein change | Exon/intron (zygosity) | Parental consanguinity | Renal disease (age of onset) | Eye disease (age of onset) | Additional clinical features |
|---|---|---|---|---|---|---|---|---|
| A3286-21/5 year | IFT81 | c.1188+1G>A | 5′ splice site | 11 (Hom) m: het/p: ND | Yes | NPHP (1.5 year) | None | Speech delay with mild intellectual disability, polydactyly (feet) |
| NCK-033/9.5 year | IFT81 | c.2015_2019del | p.Asp672Alafs*15 | 20 (Hom) m: het/p: het | Yes | Polyuria/Polydipsia (9.5 year) | RD (4 year) | Speech delay with mild intellectual disability, cerebellar atrophy |
| PPT1 | c.733G>A | p.Gly245Arg | 8 (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.