Figure 4. Distribution of age of first diagnosis of NL/NC for each mutated gene detected by WES in 22 individuals from 15 families with NL/NC in this paper (filled circles), and from previously published 13 families ⁵ (hollow squares), and from 7 previously published families ⁴ (hollow triangles).

Medians are depicted as black horizontal lines. Gene symbols are given on the X-axis for recessive genes (black) and dominant genes (red). Note that median age of onset of disease for mutated recessive genes SLC34A1, SLC12A1, GRHPR, AGXT is below the age of 5 yrs. The median age for recessive genes ATP6V1B1, CLDN19, SLC3A1, CLDN16, and for dominant genes SLC34A1 and SLC9A3R1 is greater than 5 yrs. SLC12A1, Solute carrier family 12 (sodium/potassium/chloride transporter) member 1, SLC34A1, Solute carrier family 34 (Type II Sodium/Phosphate cotransporter) member 1; GRHPR, Glyoxalate Reducatse/Hydroxypyruvate Reducatse; AGXT, Alanine-Glyoxalate Aminotransferase; ATP6V1B1, ATPase, H+ transporting, lysosomal, 56/58-KD, V1 subunit B, isoform 1; SLC9A3R1, Solute Carrier Family 9, Member 3, Regulator 1; CLDN19, Claudin 19