Table 1.
Mutations in TBC1D8B in Two Families with a Likely X-Linked FSGS
| Family | Individual | Ethnic Origin | Sex | Nucleotide Alteration | Exon | Satus | Protein Alteration | PolyPhen/Sift/MutationTaster | Amino Acid Conservation | Age at Proteinuria Onset | Immuno-sensitivity | Pathology | Age at ESRD | Age at Transplantation | Recurrence | Death |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A | NCR2230 (index) | Ecuador | M | c.738G>C | 5 | hemi | p.Gln246His | 0.996/0/DC | C. elegans | congenital | no | collapsing FSGS | 2.8 years | 4 years (thrombosis); 7 years | no | N/A |
| NCR1387 (mother) | Ecuador | F | hetero | adult | N/A | N/A | no | N/A | N/A | N/A | ||||||
| NCR1388 (sister) | Ecuador | F | hetero | 7 years | no | FSGS | no | N/A | N/A | N/A | ||||||
| brother 1 | Ecuador | M | N/A | N/A | N/A | N/A | N/A | N/A | congenital | no | N/A | N/A | N/A | N/A | 4 mo | |
| brother 2 | Ecuador | M | N/A | N/A | N/A | N/A | N/A | N/A | 5 months | no | N/A | N/A | N/A | N/A | 14 mo | |
| B | 104 | European | M | c.872T>C | 6 | hemi | p.Phe291Ser | 0.961/0/DC | C. elegans | 2 years | no | chronic progressive sclerosis | 9 years | 10 years | no | N/A |
Abbreviations: M, male; F, female; mo, months; FSGS, focal and segmental glomerulosclerosis; hemi, hemizygous; hetero, heterozygous; N/A, not applicable; ESRD, end stage renal disease