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A family with two female siblings with compound heterozygous FMR1 premutation alleles
Author(s) -
Basuta K.,
Lozano R.,
Schneider A.,
Yrigollen C.M.,
Hessl D.,
Hagerman R.J.,
Tassone F.
Publication year - 2014
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/cge.12218
Subject(s) - allele , fmr1 , compound heterozygosity , genetics , fragile x syndrome , biology , heterozygote advantage , fragile x , trinucleotide repeat expansion , gene
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.