UNASSIGNED: @entity3986 ( @entity3986 ) is a progressive @entity2057 , caused by mutations in the @entity4714 ( @entity3986 ) on the X chromosome. One-third of @entity1 are estimated to have de novo mutations. To provide in-depth genetic counseling, the comprehensive identification of mutations is mandatory. However, many @entity3986 @entity1 did not undergo genetic diagnosis because detailed genetic diagnosis was not available or their mutational types were difficult to identify. Here we report the genetic testing of a @entity3986 @entity1 , who died >20 years previously. Dried umbilical cord preserved for 38 years was the only available source of genomic DNA. Although the genomic DNA was severely degraded, multiplex ligation-dependent probe amplification analysis was performed but no gross mutations found. Sanger sequencing was attempted but not conclusive. Next-generation sequencing (NGS) was performed by controlling the tagmentation during library preparation. A nonsense mutation in @entity3986 (p.Arg2095*) was clearly identified in the proband. Consequently, the identical mutation was detected as an 11% mosaic mutation from his healthy mother. Finally, the proband's sister was diagnosed as a non-carrier of the mutation. Thus using NGS we have identified a pathogenic @entity3986 mutation from degraded DNA and low-level somatic mosaicism, which would have been overlooked using Sanger sequencing.Journal of @entity1 Genetics advance online publication, 7 January 2016; doi:10.1038/jhg.2015.157.

Next-generation sequencing discloses a nonsense mutation in the XXXX gene from long preserved dried umbilical cord and low-level somatic mosaicism in the proband mother.

@entity1 :: ('9606', 'Species') :: ['patients', 'boy', 'Human'] @entity2057 :: ('MESH:D009133', 'Disease') :: ['muscle wasting disease'] @entity3986 :: ('MESH:D009136', 'Disease') :: ['sporadic DMD', 'Duchene muscular dystrophy', 'DMD'] @entity4714 :: ('1756', 'Gene') :: ['dystrophin']
@entity4714 :: (1756,Gene) :: ['dystrophin']
