A family with two female siblings with compound heterozygousFMR1premutation alleles Academic Article uri icon

abstract

  • Premutation alleles (55-200 CGG repeats) of the fragile X mental retardation (FMR1) gene have been linked to various types of clinical involvement ranging from mood and anxiety disorders to immunological disorders and executive function deficits. Carrier females typically have a premutation allele and a normal allele (<55 CGG repeats). Although rare, seven cases of females that carry two expanded alleles (compound heterozygous premutation) have been reported. Here, we report on four members of a family including two compound heterozygous premutation sisters with similar CGG allele sizes, affected with different levels of clinical severity.

authors

  • Basuta, K
  • Lozano, R
  • Schneider, A
  • Yrigollen, CM
  • Hessl, D
  • Hagerman, RJ
  • Tassone, Flora

publication date

  • 2014