BACKGROUND: @entity8 ( @entity8 ) is characterized by @entity8 and @entity25891 . @entity5449 mutations contribute to @entity8 . However, approximately half of the @entity1 with @entity8 have no mutation in @entity5449 gene. METHODS: To investigate the incidence and effects of mutations of @entity5449 and 25 candidate genes, @entity1 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 @entity1 , including 26 @entity1 (two families of five and two, 19 sporadic cases) with @entity8 , and 4 optic nerve @entity4643 only control cases were evaluated in the present study. Six @entity5449 mutations in 21 probands [28%; two in family cohorts (n = 5 and n = 2) and in 4 out of 19 @entity1 with @entity66 ] including four novel mutations were confirmed using Sanger sequencing. Moreover, four other sequence variants ( @entity23740 , @entity15693 , @entity69666 , and @entity42742 ) were also confirmed, including a potentially pathogenic novel @entity69666 mutation. Kidney function and @entity644 were more severe in @entity1 with @entity5449 mutations than in those without the mutation. Moreover, the @entity4643 score was significantly higher in @entity1 with @entity5449 gene mutations. Three out of five @entity1 with @entity5449 mutations had @entity628 ( @entity628 ) diagnosed from kidney biopsies. CONCLUSION: The results of this study identify several new mutations of @entity5449 , and sequence variants in four additional genes, including a novel potentially pathogenic mutation in @entity69666 , which may play a role in the pathogenesis of @entity8 .

Association of XXXX and Other Gene Mutations with the Clinical Manifestations of @entity8 .

@entity1 :: ('9606', 'Species') :: ['patients', 'patient'] @entity644 :: ('MESH:D011507', 'Disease') :: ['proteinuria'] @entity8 :: ('MESH:D007674', 'Disease') :: ['renal anomalies', 'RCS', 'Renal coloboma syndrome'] @entity15693 :: ('57167', 'Gene') :: ['SALL4'] @entity66 :: ('MESH:D004194', 'Disease') :: ['sporadic disease'] @entity25891 :: ('MESH:C535970', 'Disease') :: ['optic nerve colobomas'] @entity628 :: ('MESH:D005923', 'Disease') :: ['focal segmental glomerulosclerosis', 'FSGS'] @entity5449 :: ('5076', 'Gene') :: ['PAX2'] @entity4643 :: ('MESH:D003103', 'Disease') :: ['coloboma'] @entity23740 :: ('55636', 'Gene') :: ['CHD7'] @entity69666 :: ('55083', 'Gene') :: ['KIF26B'] @entity42742 :: ('51804', 'Gene') :: ['SIX4']
@entity5449 :: (5076,Gene) :: ['PAX2']
