title: A family with two female siblings with compound heterozygous FMR1 premutation alleles.
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.affiliation: Department of Biochemistry and Molecular Medicine, UC Davis Medical Center, Sacramento, CA, USA.
authors.forename: K
authors.initials: K
authors.lastname: Basuta
authors.forename: R
authors.initials: R
authors.lastname: Lozano
authors.forename: A
authors.initials: A
authors.lastname: Schneider
authors.forename: C M
authors.initials: CM
authors.lastname: Yrigollen
authors.forename: D
authors.initials: D
authors.lastname: Hessl
authors.forename: R J
authors.initials: RJ
authors.lastname: Hagerman
authors.forename: F
authors.initials: F
authors.lastname: Tassone
mesh_terms: D000328:Adult; D000483:Alleles; D005260:Female; D051860:Fragile X Messenger Ribonucleoprotein 1 / Q000235:genetics*; D005600:Fragile X Syndrome / Q000235:genetics* / Q000473:pathology; D005820:Genetic Testing; D006579:Heterozygote; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics* / Q000473:pathology; D009154:Mutation; D011247:Pregnancy; D035781:Siblings; D019680:Trinucleotide Repeat Expansion / Q000235:genetics
chemical_list: D051860:Fragile X Messenger Ribonucleoprotein 1; C497683:FMR1 protein, human
keywords: FMR1 gene; compound heterozygous premutation; fragile X; premutation