A family with two female siblings with compound heterozygous FMR1 premutation alleles

K. Basuta, R. Lozano, A. Schneider, C. M. Yrigollen, David R Hessl, Randi J Hagerman, Flora Tassone

Research output: Contribution to journalArticlepeer-review

3 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)458-463
Number of pages6
JournalClinical Genetics
Volume85
Issue number5
DOIs
StatePublished - 2014

Keywords

  • Compound heterozygous premutation
  • FMR1 gene
  • Fragile X
  • Premutation

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics
  • Medicine(all)

Fingerprint Dive into the research topics of 'A family with two female siblings with compound heterozygous FMR1 premutation alleles'. Together they form a unique fingerprint.

Cite this