Protein and DNA analysis for the prenatal diagnosis of alpha 2-laminin-deficient congenital muscular dystrophy

Show simple item record Yamamoto, L. U. Gollop, T. R. Naccache, N. F. Pavanello, RCM Zanoteli, E. Zatz, M. Vainzof, M. 2016-01-24T12:37:22Z 2016-01-24T12:37:22Z 2004-09-01
dc.identifier.citation Diagnostic Molecular Pathology. Philadelphia: Lippincott Williams & Wilkins, v. 13, n. 3, p. 167-171, 2004.
dc.identifier.issn 1052-9551
dc.description.abstract Congenital muscular dystrophies (CMD) are characterized by neonatal hypotonia and/or artrogriposis associated with a dystrophic muscle biopsy. the CMD1A form is caused by a deficiency of the alpha2 chain of laminin 2 (LAMA2 gene at 6q2), a protein present in the basal lamina of muscle fibers, in Schwann cells, epidermis, and in fetal trophoblastic tissue. This allows its Study for prenatal diagnosis in the chorionic villous (CV), which was performed in a family with one deceased affected CMD1A child. Immunohistochemical analysis of the CV using antibodies against the C- and N-terminal domains of the alpha2-laminin protein showed a normal positive labeling for both antibodies in the at-risk CV, which did not differ from the normal control CV. the integrity of the CV membrane was confirmed through the analysis with antibodies against alpha1, beta1, and gamma1 laminins. DNA study using markers flanking the 6q2 region showed that the affected patient and the at-risk fetus did not share the same haplotype. Therefore, the fetus was considered normal through both methodologies, which was confirmed after the birth of a clinically normal male baby. As the LAMA2 gene is very large and the spectrum of mutations causing disease is wide, the analysis of the protein in muscle biopsy has been largely used for the diagnosis. Besides, the possibility to detect it in the chorionic villous, mainly using positive markers, also offers a powerful tool for prenatal diagnosis. en
dc.format.extent 167-171
dc.language.iso eng
dc.publisher Lippincott Williams & Wilkins
dc.relation.ispartof Diagnostic Molecular Pathology
dc.rights Acesso restrito
dc.subject alpha 2-laminin en
dc.subject congenital muscular dystrophy en
dc.subject CMD1A en
dc.subject prenatal diagnosis en
dc.title Protein and DNA analysis for the prenatal diagnosis of alpha 2-laminin-deficient congenital muscular dystrophy en
dc.type Artigo
dc.contributor.institution Universidade de São Paulo (USP)
dc.contributor.institution Inst Med Fetal & Genet Humana
dc.contributor.institution Universidade Federal de São Paulo (UNIFESP)
dc.description.affiliation Univ São Paulo, Natl Ctr Human Genome Res, Dept Biol, BR-05508900 São Paulo, Brazil
dc.description.affiliation Inst Med Fetal & Genet Humana, São Paulo, Brazil
dc.description.affiliation UNIFESP, Dept Neurol, São Paulo, Brazil
dc.description.affiliationUnifesp UNIFESP, Dept Neurol, São Paulo, Brazil
dc.identifier.doi 10.1097/01.pdm.0000124912.24194.d0
dc.description.source Web of Science
dc.identifier.wos WOS:000223575800007


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