Parental somatic mosaicism is underrecognized and influences recurrence risk of genomic disorders.

ABSTRACT: New human mutations are thought to originate in germ cells, thus making a recurrence of the same mutation in a sibling exceedingly rare. However, increasing sensitivity of genomic technologies has anecdotally revealed mosaicism for mutations in somatic tissues of apparently healthy parents. Such somatically mosaic parents might also have germline mosaicism that can potentially cause unexpected intergenerational recurrences. Here, we show that somatic mosaicism for transmitted mutations among parents of children with simplex genetic disease is more common than currently appreciated. Using the sensitivity of individual-specific breakpoint PCR, we prospectively screened 100 families with children affected by genomic disorders due to rare deletion copy-number variants (CNVs) determined to be d

SUBMITTER: Campbell IM 

PROVIDER: S-EPMC4129404 | biostudies-literature | 2014 Aug

REPOSITORIES: biostudies-literature