10 Years' Experience in Fragile X Testing Among Mentally Retarded Individuals in Greece: A Molecular and Epidemiological Approach

10 Years' Experience in Fragile X Testing Among Mentally Retarded Individuals in Greece: A Molecular and Epidemiological Approach

Fragile X syndrome, the second most common genetic cause of mental retardation, is due to the expansion of a trinucleotide repeat (CGG)n within the first exon of the FMR-1 gene. Molecular genetic analysis provides accurate diagnosis and facilitates genetic counselling and prenatal testing. Screening...

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Bibliographic Details
Published in:In vivo (Athens) Vol. 22; no. 4; pp. 451 - 455
Main Authors: Sofocleous, C, Kitsiou, S, Fryssira, H, Kolialexi, A, Kalaitzidaki, M, Roma, E, Tsangaris, G Th, Chistofidou, C, Metaxotou, C, Kanavakis, E, Mavrou, A
Format: Journal Article
Language:English
Published: Greece International Institute of Anticancer Research 01-07-2008
Subjects:
Adolescent
Adult
Aged
Child
Child, Preschool
Female
Fragile X Syndrome - complications
Fragile X Syndrome - epidemiology
Fragile X Syndrome - genetics
Greece
Humans
Infant
Intellectual Disability - complications
Intellectual Disability - epidemiology
Intellectual Disability - genetics
Male
Middle Aged
Mutation
Trinucleotide Repeats
Greece
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Summary:Fragile X syndrome, the second most common genetic cause of mental retardation, is due to the expansion of a trinucleotide repeat (CGG)n within the first exon of the FMR-1 gene. Molecular genetic analysis provides accurate diagnosis and facilitates genetic counselling and prenatal testing. Screening for the fragile X mutation in a sample of 3,888 individuals in Greece is reported: 1,755 children with non-specific mental retardation, 1,733 parents and other family members and 400 normal individuals. Molecular analysis allowed for the identification and characterization of 52 fragile X families confirming the clinical diagnosis in 57 males and 4 females. Sixty-six female carriers (6 mentally retarded) and 4 normal transmitting males were also identified. Four severely retarded males and their mothers carried unmethylated premutations, while a moderately retarded girl had a deletion of ≈150 bp. Overall sizing of the CGG repeat produced an allele distribution of 6-58 CGG repeats (mean 28-30), similar to that in other Caucasian populations.
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ISSN:0258-851X
1791-7549