Table 1.
Genetic and Clinical Characteristics of Individuals with CEP83 Mutations
| Individual(s) | Ethnic Origin | Parental Consanguinity | Nucleotide Alteration(s)a | Deduced Protein Change | Exon (Zygosity, Segregation) | AA Conservation | PolyPhen2, Mut.taster | Nephronophthisis Age of ESRD | Additional Clinical Features |
|---|---|---|---|---|---|---|---|---|---|
| NPH2036-II1 | European (France) | no | c.121C>T | p.Arg41∗ | 3 (Het, p) | NA | NA | 3 years | mild intellectual disability, strabismus, hepatic cytolysis, cholestasis |
| c.335_352del | p.Pro112_Leu117del | 5 (Het, m) | NA | NA | |||||
| NPH1402 | European (France) | no | c.241C>T | p.Gln81∗ | 4 (Het, m) | NA | NA | 4.5 years | speech delay, hydrocephalus |
| c.2075_2077del | p.Gln692del | 17 (Het, p) | NA | NA | |||||
| F374-21 | European | no | c.260T>C | p.Leu87Pro | 4 (Hom) | D. rerio (except Xenopus) | D(0.944), DC(0.99) | ND | ND |
| NPH1018 | European (France) | no | c.625C>T | p.Arg209∗ | 7 (Het) | NA | NA | 4 years | intellectual disability, retinitis |
| c.1532G>C | p.Arg511Pro | 13 (Het) | G. gallus | D(0.915), DC(0.941) | |||||
| NPH1412-II1, -II2 | European (Poland/France) | no | c.1530C>A | p.Cys510∗ | 13 (Het, m) | NA | NA | 3 years | high blood pressure |
| c.1532G>C | p.Arg511Pro | 13 (Het, p) | G. gallus | D(0.915), DC(0.941) | |||||
| NPH982 | Turkish | yes | c.2050_2052del | p.Glu684del | 17 (Hom) | D. reriob | NA | 3 years | high blood pressure, hepatic fibrosis |
| A4037-21 | Latino | no | c.2007del | p.Glu669Aspfs∗14 | 17 (Hom) | NA | NA, DC(1.00) | 1 year | hydrocephalus, intellectual disability, dysmorphism, triple X syndrome (47, XXX), heart anomaly |
Abbreviations are as follows: D, predicted “Damaging;” DC, predicted “Disease causing;” Het, heterozygous; Hom, homozygous; m, maternal; NA, not applicable; ND, no data; NPH, nephronophthisis; p, paternal.
a
cDNA mutations are numbered according to human cDNA reference sequence NM_016122.2 (CEP83), where +1 corresponds to the A of ATG start translation codon.
b
This residue (Glu at 684) is conserved down to D. rerio except G. gallus and X. tropicalis, which have Asp instead.