UNASSIGNED: @entity3686 ( @entity3686 ) is a progressive, @entity8 . Although @entity1 with @entity3686 usually develop @entity454 before 30 years of age, some @entity1 show a milder phenotype and develop @entity454 later in life. However, the molecular mechanisms associated with this milder phenotype have not been fully identified. We genetically diagnosed 186 @entity1 with suspected @entity3686 between January 2006 and August 2014. Genetic examination involved: (1) extraction and analysis of genomic DNA using PCR and direct sequencing using Sanger's method and (2) next-generation sequencing to detect variant allele frequencies. We identified somatic mosaic variants in the type VI collagen, a5 gene ( @entity3687 ) in four @entity1 . Interestingly, two of these four @entity1 with variant frequencies in kidney biopsies or urinary sediment cells of >= 50% showed @entity811 and moderate @entity644 , whereas the other two with variant frequencies of <50% were asymptomatic or only had @entity811 . De novo variants can occur even in asymptomatic male cases of @entity3686 resulting in mosaicism, with important implications for genetic counseling. This is the first study to show a tendency between the variant allele frequency and disease severity in male @entity3686 @entity1 with somatic mosaic variants in @entity3687 . Although this is a very rare status of somatic mosaicism, further analysis is needed to show this correlation in a larger population.European Journal of @entity1 Genetics advance online publication, 27 May 2015; doi:10.1038/ejhg.2015.113.

Somatic mosaicism and variant frequency detected by next-generation sequencing in XXXX .

@entity1 :: ('9606', 'Species') :: ['patients', 'Human', 'men'] @entity644 :: ('MESH:D011507', 'Disease') :: ['proteinuria'] @entity8 :: ('MESH:D007674', 'Disease') :: ['hereditary nephropathy'] @entity3686 :: ('MESH:D009394', 'Disease') :: ['X-linked Alport syndrome', 'XLAS'] @entity3687 :: ('1287', 'Gene') :: ['COL4A5'] @entity811 :: ('MESH:D006417', 'Disease') :: ['hematuria'] @entity454 :: ('MESH:D007676', 'Disease') :: ['end-stage renal disease']
@entity3686 :: (MESH:D009394,Disease) :: ['X-linked Alport syndrome']
