Table 2. Monogenic causative mutations detected in 2 dominant genes in 5 individuals from 3 families with NL/NC.
Mutated genes and related diseases (OMIM nomenclature) are shown in subheaders to table.
| Family Individual |
Nucleotide change |
Amino acid change |
State | PPh2 | Evolutionary conservation |
Ref. | Ethnicity (Sex) |
Age of onset (yr) |
Family history |
Consan guinity |
Phenotype prior to WES |
|---|---|---|---|---|---|---|---|---|---|---|---|
|
| |||||||||||
| SLC9A3R1, Nephrolithiasis/osteoporosis (NPHLOP2) | |||||||||||
|
| |||||||||||
| B969-21 | c.673G>A | p.Glu225Lys | het | 0.82 | D. rerio | Y32 | American (F) | 7 | Y | N | NL, hypophosphatemia |
|
| |||||||||||
| SLC34A1, Infantile hypercalcemia/hypophosphatemia/nephrolithiasis | |||||||||||
|
| |||||||||||
| B1301 21 | c.398C>T | p.Ala133Val | het | 0.99 | C. intestinalis | Y33 | European (F) | 6.5 | Y (1 sibling affected) | N | NC |
| B1301_22 | c.398C>T | p.Ala133Val | het | 0.99 | C. intestinalis | Y33 | European (M) | 10.5 | NC | ||
| B986_21 | c.536T>C | p.Leu179Pro | het | 1 | C. intestinalis | Novel | American (F) | 1.5 | Y (1 sibling affected) | N | NC |
| B986_22 | c.536T>C | p.Leu179Pro | het | 1 | C. intestinalis | Novel | American (F) | 1.5 | NC | ||
F, female; het, heterozygous; hx, history; M, male; N, No; NC, nephrocalcinosis; NL, nephrolithiasis;NPHLOP2, Nephrolithiasis/osteoporosis, hypophosphatemic, 2; PPh2, PolyPhen-2; SLC9A3R1, solute carrier family 9, member 3, regulator 1; SLC34A1, solute carrier family 34; Y, Yes.