Please use this identifier to cite or link to this item: https://observatorio.fm.usp.br/handle/OPI/1998
Title: Spinal muscular atrophy due to a ""de novo"" 1.3 Mb deletion: Implication for genetic counseling
Authors: SILVA, Luciana Rodrigues Jacy daCOLOVATI, Mileny Esbravatti StephanoCOPRERSKI, BrunoANDRADE, Carlos Eugenio Fernandez deZANOTELI, EdmarRASKIN, SalmoOLIVEIRA, Mariana MoysesMELARAGNO, Maria IsabelPEREZ, Ana Beatriz Alvarez
Citation: NEUROMUSCULAR DISORDERS, v.23, n.5, p.388-390, 2013
Abstract: We report a 3-year-old female with type I spinal muscular atrophy (SMA) born to a young and non-consanguineous couple. The child presented at two months of life with intense muscle weakness affecting predominantly proximal portions of the limbs, especially the legs, muscle hypotonia, fasciculation of the tongue, and severe respiratory muscle involvement. She remained in an intensive care unit with an assisted ventilation system from the fourth month of life. She died at 3 years of age from pulmonary infection. Molecular analysis confirmed the diagnosis of SMA but revealed that only the father was an asymptomatic carrier. Because SMN1 is mapped in a complex region containing repetitive elements due to an inverted duplication of approximately 500 kb, we carry out an SNP array and detected a 1.3 Mb deletion including the SMN1 and SMN2 genes that explain the disease.
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