RESUMEN
A deletion of one of the two copies of the 9-bp tandem repeat sequence (CCCCCTCTA), in the small non-coding/untranslated segment located between the cytochrome oxidase II and lysine tRNA genes of mitochondrial DNA (mtDNA), has previously been used as a polymorphic anthropological marker (MIC9D) for people of Africa and Asia, but it has been rarely reported in Europe. 32 Sicilian patients with syndromic hearing loss, negative for mutations in GJB2 and GJB6 genes, were tested for mtDNA known point mutations associated with syndromic or non-syndromic hearing loss by RFLP and/or direct sequencing. We identified the presence of the MIC9D in homoplasmy in lymphocytes and muscle of three subjects with sensorineural hearing loss and encephalomyopathy, two of these also presented moderate mental retardation. This deletion was absent in 300 Caucasian controls. Although further studies are warranted, our results suggest that the MIC9D polymorphism could have a susceptibility role in Caucasus, such as Sicily population.
Asunto(s)
Emparejamiento Base/genética , ADN Mitocondrial/genética , Eliminación de Gen , Pérdida Auditiva/genética , Encefalomiopatías Mitocondriales/genética , Población Blanca/genética , Adolescente , Adulto , Anciano , Niño , Preescolar , Conexina 26 , Conexinas , Femenino , Pérdida Auditiva/diagnóstico , Humanos , Masculino , Persona de Mediana Edad , Encefalomiopatías Mitocondriales/diagnóstico , Mutación Puntual/genética , Adulto JovenRESUMEN
The neurobiological hypothesis supports the relevance of studying visual-perceptual and visual-motor skills in relation to cognitive abilities in intellectual disabilities because the defective intellectual functioning in intellectual disabilities is not restricted to higher cognitive functions but also to more basic functions. The sample was 102 children 6 to 16 years old and with different severities of intellectual disabilities. Children were administered the Wechsler Intelligence Scale for Children, the Bender Visual Motor Gestalt Test, and the Developmental Test of Visual Perception, and data were also analysed according to the presence or absence of organic anomalies, which are etiologically relevant for mental disabilities. Children with intellectual disabilities had deficits in perceptual organisation which correlated with the severity of intellectual disabilities. Higher correlations between the spatial subtests of the Developmental Test of Visual Perception and the Performance subtests of the Wechsler Intelligence Scale for Children suggested that the spatial skills and cognitive performance may have a similar basis in information processing. Need to differentiate protocols for rehabilitation and intervention for recovery of perceptual abilities from general programs of cognitive stimulations is suggested.