Balkan Journal of Medical Genetics

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

MATERIALS AND METHODS

In total, 85 unrelated patients with MR were included in the study. The clinical diagnoses were as follows: 32 FXS male patients (aged between 2 and 26 years), 36 RTT girls (aged between 2 and 20 years), of whom 23 had classical RTT and 13 atypical RTT [with concomitant diagnosis of autism, epilepsy, and West syndrome (OMIM# 308350)], PWS/AS, Pitt-Hopkins syndrome (OMIM# 610954), 14 PWS (aged between 1 and 11 years), 10 boys and four girls (one of the boys had a concomitant diagnosis of spinal muscular atrophy (SMA, OMIM#253300) and three AS (aged between 4 and 10 years, two girls and one boy). All patients are of Bulgarian ethnicity. The research protocol was approved by The Ethics Committee for Research Investigations to the Medical University, Sofia, Bulgaria. Informed consent was obtained from the guardians of all patients. DNA samples were extracted from peripheral blood, using DNA extraction kit (QIAamp DNA Mini Kit; Qiagen, Hilden, Germany). The genetic tests covered the genes FMR1, MECP2, CDKL5, ARX, and methylation analysis of exon 1 of the SNRPN. In addition, multiplex ligation-dependent probe amplification (MLPA) analysis was used to look for large deletions/duplications and to clarify the methylation status of FMR1 and SNRPN genes. The MLPA analysis proved to be useful in clarifying mosaic FXS cases [10], in detecting large deletions on the X-chromosome genes, as well as in determining the type of mutation (deletion or UPD) in PWS/AS cases.

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