GRAZIELA JORGE POLIDO

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Instituto Central, Hospital das Clínicas, Faculdade de Medicina

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  • article 20 Citação(ões) na Scopus
    Intragenic variants in the SMN1 gene determine the clinical phenotype in 5q spinal muscular atrophy
    (2020) MENDONCA, Rodrigo de Holanda; JR, Ciro Matsui; POLIDO, Graziela Jorge; SILVA, Andre Macedo Serafim; KULIKOWSKI, Leslie; DIAS, Alexandre Torchio; ZANARDO, Evelin Aline; SOLLA, Davi Jorge Fontoura; GURGEL-GIANNETTI, Juliana; MOURA, Ana Carolina Monteiro Lessa de; SAMPAIO, Gabriela Palhares Campolina; OLIVEIRA, Acary Souza Bulle; SOUZA, Paulo Victor Sgobbi de; PINTO, Wladimir Bocca Vieira de Rezende; GONCALVES, Eduardo Augusto; FARIAS, Igor Braga; NARDES, Flavia; ARAUJO, Alexandra Prufer de Queiroz Campos; JR, Wilson Marques; TOMASELLI, Pedro Jose; RIBEIRO, Mara Dell Ospedale; KITAJIMA, Joao Paulo; MONTEIRO, Fabiola Paoli; SAUTE, Jonas Alex Morales; BECKER, Michele Michelin; SARAIVA-PEREIRA, Maria Luiza; BRUSIUS-FACCHIN, Ana Carolina; LINDEN, Vanessa van der; FLORENCIO, Rodrigo Neves; BARBOSA, Andre Vinicius Soares; MACHADO-COSTA, Marcela Camara; PESSOA, Andre Luiz Santos; SOUZA, Leticia Silva; JR, Marcondes Cavalcante Franca; KOK, Fernando; REED, Umbertina Conti; ZANOTELI, Edmar
    Objective The aim of the study was to report the proportion of homozygous and compound heterozygous variants in the survival motor neuron 1 (SMN1) gene in a large population of patients with spinal muscular atrophy (SMA) and to correlate the severity of the disease with the presence of specific intragenic variants in SMN1 and with the SMN2 copy number. Methods Four hundred fifty Brazilian patients with SMA were included in a retrospective study, and clinical data were analyzed compared with genetic data; the SMN2 copy number was obtained by multiplex ligation-dependent probe amplification and pathogenic variants in SMN1 by next-generation sequencing. Results Four hundred two patients (89.3%) presented homozygous exon 7-SMN1 deletion, and 48 (10.7%) were compound heterozygous for the common deletion in one allele and a point mutation in the other allele. Recurrent variants in exons 3 and 6 (c.460C>T, c.770_780dup and c.734_735insC) accounted for almost 80% of compound heterozygous patients. Another recurrent pathogenic variant was c.5C>G at exon 1. Patients with c.770_780dup and c.734_735insC had a clinical phenotype correlated with SMN2 copy number, whereas the variants c.460C>T and c.5C>G determined a milder phenotype independently of the SMN2 copies. Conclusions Patients with specific pathogenic variants (c.460C>T and c.5C>G) presented a milder phenotype, and the SMN2 copy number did not correlate with disease severity in this group.