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Background  Renal coloboma syndrome (RCS) is characterized by renal anomalies and optic nerve colobomas.  PAX2  mutations contribute to RCS. However, approximately half of the patients with RCS have no mutation in  PAX2 gene .    Methods  To investigate the incidence and effects of mutations of  PAX2  and 25 candidate genes, patient genes were screened using next-generation sequence analysis, and candidate mutations were confirmed using Sanger sequencing. The correlation between mutations and clinical manifestation was evaluated.    Result  Thirty patients, including 26 patients (two families of five and two, 19 sporadic cases) with RCS, and 4 optic nerve coloboma only control cases were evaluated in the present study. Six  PAX2  mutations in 21 probands [28%; two in family cohorts (n = 5 and n = 2) and in 4 out of 19 patients with sporadic disease] including four novel mutations were confirmed using Sanger sequencing. Moreover, four other sequence variants (CHD7, SALL4, KIF26B, and SIX4) were also confirmed, including a potentially pathogenic novel KIF26B mutation. Kidney function and proteinuria were more severe in patients with  PAX2  mutations than in those without the mutation. Moreover, the coloboma score was significantly higher in patients with  PAX2  gene mutations. Three out of five patients with  PAX2  mutations had focal segmental glomerulosclerosis (FSGS) diagnosed from kidney biopsies.    Conclusion  The results of this study identify several new mutations of PAX2, and sequence variants in four additional genes, including a novel potentially pathogenic mutation in KIF26B, which may play a role in the pathogenesis of RCS.

Association of PAX2 and Other Gene Mutations with the Clinical Manifestations of Renal Coloboma Syndrome