CLINICAL AND MOLECULAR DATA ON
MENTAL RETARDATION IN BULGARIA Todorov T1#, Todorova A1#, Avdjieva D2, Dimova P3,
Angelova L4, Tincheva R2 and Mitev V1 *Corresponding Author: Tihomir Todorov, Department of Medical Chemistry and Biochemistry,
Sofia Medical University, 2 “Zdrave” str., Sofia 1431, Bulgaria; Tel./Fax: +359 29530715;
tisho.todorov@abv.bg page: 11 download article in pdf format
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Abstract
Mental retardation (MR) is clinically and
genetically highly heterogeneous. We have done
molecular genetic testing on 85 Bulgarian MR patients
who were clinically classed as fragile X syndrome
(FXS) (n = 32), Rett syndrome (RTT) (n = 36) and
Prader-Willi/Angelman syndromes (PWS/AS) (n
= 17). We tested for the fragile X MR 1 (FMR1),
methyl-CpG binding protein 2 (MECP2), cyclin
dependent kinase-like 5 (CDKL5), and Aristaless X
(ARX) genes, and did methylation analyses of exon
1 of the small nuclear ribonucleoprotein polypeptide
N (SNRPN), and multiplex ligation-dependent probe
amplification (MLPA) analyses for large deletions/
duplications, and for the methylation status of FMR1
and SNRPN genes. In the FXS group we only found
four mutations in the FMR1 gene (12.5%). In the RTT
group we found nine mutations in the MECP2 gene
(25.0%) but no CDKL5 gene mutations. In the PWS/
AS group we found nine mutations in the 15q11-q13
region (53%). Thus, we clarified the molecular
basis in 26.0% of the patients. The proportion of
genetically proved diagnoses in our RTT patients
(25.0%) is relatively high and all these cases are due
to MECP2 mutations. Despite the type of mutation,
all these cases are very similar from the clinical point
of view and well recognized in Bulgaria.
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