Molecular screening

Syndromic and non-syndromic forms of retinitis pigmentosa: a comprehensive Italian clinical and molecular study reveals new mutations

C. O. Pierrottet, Zuntini, M., Digiuni, M., Bazzanella, I., Ferri, P., Paderni, R., Rossetti, L. M., Cecchin, S., Orzalesi, N., and Bertelli, M., Syndromic and non-syndromic forms of retinitis pigmentosa: a comprehensive Italian clinical and molecular study reveals new mutations, vol. 13, pp. 8815-8833, 2014.

Mutations in more than 60 different genes have been associated with non-syndromic and syndromic retinitis pigmentosa (RP), a heterogeneous group of inherited retinal dystrophies. To increase the understanding of the molecular epidemiology of the disease in Italy, we analyzed 56 patients with syndromic and non-syndromic forms of RP attending the Retinitis Pigmentosa Center of San Paolo Hospital (Milan, Italy). Patients underwent detailed clinical examination.

A985G mutation incidence in the medium-chain acyl-CoA dehydrogenase (MCAD) gene in Brazil

A. C. S. Ferreira, Orlandi, M. P. A., Oliveira, V. C., Malta, F. S. V., Caxito, F. A., Gomes, K. B., Valadares, E. R., and Godard, A. L. B., A985G mutation incidence in the medium-chain acyl-CoA dehydrogenase (MCAD) gene in Brazil, vol. 8, pp. 487-493, 2009.

In view of the serious consequences of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency and the absence of information about its incidence in the Brazilian population, we examined the frequency of the A985G mutation in the MCAD gene. A retrospective analysis was made of data on 1722 individuals (844 females) genotyped for the A985G mutation in the MCAD gene, using genomic DNA extracted from peripheral blood leukocytes and genotyping with PCR-RFLP; 0.41% of these individuals were heterozygous for the A985G mutation. The mutant homozygous genotype was not found.

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