Also, we would like to emphasize the importance of identifying and diagnosing affected individuals with a premutation
and a full mutation without phenotype for genetic counseling and education on associated pathologies.
The carriers of the premutation
alleles can exhibit 3 clinical forms, i.
In every pooling variant and PCR triplicate we were able to correctly determine the diagnostic classification (normal, intermediate, premutation
, full mutation) and in each case determine the major expansion size, defined as the largest peak when assayed individually (Table 1).
Expanded CGG triplets in the premutation
range (55-200 CGG) in the FMRI gene are responsible for this syndrome (2,3,4,5).
and intermediate alleles in the ID cohort
Many laboratories incorrectly identified samples with 42 repeats as gray-zone or premutation
Lifetime Prevalence of Mood and Anxiety Disorders in Fragile X Premutation
Using a newly available and cost-effective screening test, the study offered voluntary NBS for both the fragile X full mutation and premutation
Diagnostic testing revealed heterozygosity for a Fragile X syndrome premutation
(CGG repeat length 31 for the normal allele; 72 for the premutation
Like those with the full mutation, premutation
carriers have an abnormal number of repeats, yet fewer than are typically required to cause fragile-X syndrome.
A review of fragile X premutation
disorders: expanding the psychiatric perspective.
The frequency of this pattern determines if an individual has a premutation
or a full mutation.