Balkan Journal of Medical Genetics

ASSOCIATION BETWEEN LOSS OF Dp140 AND COGNITIVE IMPAIRMENT IN DUCHENNE AND BECKER DYSTROPHIES
Chamova T1,*, Guergueltcheva V1, Raycheva M1, Todorov T2,3, Genova J2, Bichev S4, Bojinova V5, Mitev V3, Tournev I1,6, Todorova A2,3
*Corresponding Author: Teodora Chamova, M.D., Ph.D., Clinic of Neurology, University Hospital “Alexandrovska”, 1 Georgi Sofiiski str., Sofia 1431, Bulgaria; Tel.: +359-889802252; Fax: +359-2-9526787; E-mail: teodoratch@abv.bg
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RESULTS

Genetic, clinical and neuropsychological data are summarized in Table 1. Of the 53 patients included in the study, 38 (72.0%) were diagnosed as DMD, 13 (24.0%) as BMD and two (4.0%) were considered to have an intermediate phenotype. In total 30 (78.9%) out of 38 DMD patients were found to have molecular deletions in the DMD gene, seven carried point mutations and one was found to have duplications in the DMD gene. In the 38 DMD patients, the deletions with defined boundaries and the point mutations, were predicted to disrupt the dystrophin reading-frame. For the 13 BMD patients and two IMD patients, the identified deletions were inframe mutations. Deletions were heterogeneous in size and evenly distributed along the gene. We compared the IQ of the patients with DMD, IMD and BMD, in order to verify if there is a statistically significant difference between the global intelligence of these allelic diseases, differing by the severity of muscle weakness. The mean IQ of our DMD and IMD patients was 86.98 ± 15.34, varying between 53 and 124, whereas the mean IQ of BMD patients was 85.62 ± 10.40, with a smaller variation between 65 and 105. Fifteen percent of the DMD and IMD patients (6/40) had mild mental retardation, while 7.0% (1/13) of the BMD patients were mildly mentally retarded (IQ bellow 70). Four DMD (10.0%) and two BMD (16.0%) patients showed a borderline cognitive level (70

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