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Autori: A. Sireteanu, E. Neagu, G. Schobers, V. Bica, C. Skrypnyk, M. Puiu, V.Cret, L. Barbarii, C. Rusu
Editorial: nature publishing journal, European journal of human genetics, Volume 16 Supplement 2 May 2008, p.405, 2008.
Mental retardation (MR) is a heterogeneous entity, genetic causes being involved mainly in moderate/severe forms. Subtelomeric rearrangements (SR) play an important role in idiopatic MR determinism. Recently introduced MLPA (Multiplex Ligation Probe Amplification) technique seems to provide good results in SR’s identification. We have used MLPA to identify SR in children with idiopatic MR, the protocol consisting of the following sequence: clinical selection based on de Vries score; karyotype; antiFMRP test for Fragile X syndrome screening; PCR for Fragile X syndrome diagnosis; MLPA testing using 2 independent kits in order to separate polymorphisms. Parents were tested if an abnormality was detected in their child (by karyotype/MLPA).
The study group was formed of 223 children that had a de Vries score of 3/more. All patient data were recorded in a database specially designed. In 28 of them (12.5%) the karyotype revealed different abnormalities. 17 cases (7.6%) presented speech delay/ autism, but antiFMRP test and PCR were normal. Out of the 195 MLPA tests done: 168 cases (86.1% were normal, 13 (6,7%) abnormal and 14 (7.1%) had polymorphisms. The most frequently involved SR were 1p del and 7q del. Clinical features of the cases identified with different SR will be illustrated with photos and discussed.
In conclusion, we appreciate that the diagnostic score is useful in case selection for further testing, MLPA proves to be efficient in diagnosing SR and the frequency of SR as a possible cause of idiopatic MR is similar to other studies in the literature.
Cuvinte cheie: retard mental, rearanjamente subtelomerice,MLPA // Mental retardation*subtelomeric rearrangements*MLPA