Please use this identifier to cite or link to this item: http://repositorio.unifesp.br/handle/11600/36297
Title: Spinal muscular atrophy due to a de novo 1.3 Mb deletion: Implication for genetic counseling
Authors: Jacy da Silva, Luciana Rodrigues [UNIFESP]
Stephano Colovati, Mileny Esbravatti [UNIFESP]
Coprerski, Bruno [UNIFESP]
Fernandez de Andrade, Carlos Eugenio
Zanoteli, Edmar
Raskin, Salmo
Oliveira, Mariana Moyses [UNIFESP]
Melaragno, Maria Isabel [UNIFESP]
Alvarez Perez, Ana Beatriz [UNIFESP]
Universidade Federal de São Paulo (UNIFESP)
Santa Marcelina Hosp
Universidade de São Paulo (USP)
Genetika
Keywords: Spinal muscular atrophy
SNP array
Genetic counseling
SMN gene
Issue Date: 1-May-2013
Publisher: Elsevier B.V.
Citation: Neuromuscular Disorders. Oxford: Pergamon-Elsevier B.V., 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. (C) 2013 Elsevier B.V. All rights reserved.
URI: http://repositorio.unifesp.br/handle/11600/36297
ISSN: 0960-8966
Other Identifiers: http://dx.doi.org/10.1016/j.nmd.2013.01.009
Appears in Collections:Em verificação - Geral

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