RESUMO
Chromosome 15q11q13 is among the least stable regions in the genome due to its highly complex genomic architecture. Low copy repeat elements at 15q13.3 facilitate recurrent copy number variants (CNVs), with deletions established as pathogenic and CHRNA7 implicated as a candidate gene. However, the pathogenicity of duplications of CHRNA7 is unclear, as they are found in affected probands as well as in reportedly healthy parents and unaffected control individuals. We evaluated 18 children with microduplications involving CHRNA7, identified by clinical chromosome microarray analysis (CMA). Comprehensive phenotyping revealed high prevalence of developmental delay/intellectual disability, autism spectrum disorder, and attention deficit/hyperactivity disorder. As CHRNA7 duplications are the most common CNVs identified by clinical CMA, this study provides anticipatory guidance for those involved with care of affected individuals.
Assuntos
Transtorno do Deficit de Atenção com Hiperatividade/genética , Transtorno do Espectro Autista/genética , Variações do Número de Cópias de DNA/genética , Deficiências do Desenvolvimento/genética , Fenótipo , Receptor Nicotínico de Acetilcolina alfa7/genética , Criança , Feminino , Predisposição Genética para Doença/genética , Humanos , Masculino , Análise em Microsséries , LinhagemRESUMO
This research was supported in part by an equipment grant from Hydra-Fitness Industries. Inc., Belton, TX. Thirty-one subjects were included in this investigation (19 female and 12 male). The subjects ranged in age from 19-38 years with a mean age of 25 years. The subjects performed a maximal strength test of knee flexion and extension using the Omni Tron Total Power Unit employing one resistance setting. Values were obtained for eight muscular performance indicators. An identical strength test was repeated the following day. Reliability coefficients were calculated using the two sets of data. Pearson product coefficients for the eight performance indicators ranged from 0.85 to 0.97. Values from test 1 were also compared to test 2 values for significant difference using the student t-test. No significant difference was found (p < 0.05). The authors concluded that, based on the data obtained in this pilot study, the Omni Tron Total Power Unit holds the potential to produce reliable data relating to muscular performance. J Orthop Sports Phys Ther 1989;10(10):418-422.