A recent study identified a heterozygous missense variant (c.32 A > G, p.Q11R) in exon 1 of TUBB4B. This variant is a potential causative mutation in patients with early-onset hearing loss, hyperopia, hypophosphatemic rickets (HR), renal tubular Fanconi syndrome (FS), and nephrocalcinosis31. This evidence concerns the gene TUBB4B and hypophosphatemic rickets.