Please use this identifier to cite or link to this item: https://repositorio.unifesp.br/handle/11600/31915
Title: Pompe disease in a Brazilian series: clinical and molecular analyses with identification of nine new mutations
Authors: Oba-Shinjo, Sueli M.
Silva, Roseli da
Andrade, Fernanda G.
Palmer, Rachel E.
Pomponio, Robert J.
Ciociola, Kristina M.
Carvalho, Mary S.
Gutierrez, Paulo S.
Porta, Gilda
Marrone, Carlo D.
Munoz, Veronica
Grzesiuk, Anderson K.
Llerena, Juan C.
Berditchevsky, Celia R.
Sobreira, Claudia
Horovitz, Dafne
Hatem, Thamine P.
Frota, Elizabeth R. C.
Pecchini, Rogerio
Kouyoumdjian, Joao Aris
Werneck, Lineu
Amado, Veronica M.
Camelo, Jose S.
Mattaliano, Robert J.
Marie, Suely K. N.
Universidade de São Paulo (USP)
Universidade Federal de São Paulo (UNIFESP)
Genzyme Corp
Clin Marrone
Hosp Clin Porto Alegre
Inst Neurol & Coluna Vertebral
Fundacao Oswaldo Cruz
Hosp Servidores Estado Rio de Janeiro
Unidade Cardiol & Med Fetal
Universidade Federal de Minas Gerais (UFMG)
Santa Casa de Misericordia Med Sch
Sch Med Sao Jose do Rio Preto
Univ Parana
Universidade de Brasília (UnB)
Keywords: Acid alpha-glucosidase
Pompe disease
Glycogen storage disease type II
Acid maltase deficiency
Mutation analysis
Novel mutation
Issue Date: 1-Nov-2009
Publisher: Dr Dietrich Steinkopff Verlag
Citation: Journal of Neurology. Heidelberg: Dr Dietrich Steinkopff Verlag, v. 256, n. 11, p. 1881-1890, 2009.
Abstract: Pompe disease (glycogen storage disease type II or acid maltase deficiency) is an inherited autosomal recessive deficiency of acid alpha-glucosidase (GAA), with predominant manifestations of skeletal muscle weakness. A broad range of studies have been published focusing on Pompe patients from different countries, but none from Brazil. We investigated 41 patients with either infantile-onset (21 cases) or late-onset (20 cases) disease by muscle pathology, enzyme activity and GAA gene mutation screening. Molecular analyses identified 71 mutant alleles from the probands, nine of which are novel (five missense mutations c.136T > G, c.650C > T, c.1456G > C, c.1834C > T, and c.1905C > A, a splice-site mutation c.1195-2A > G, two deletions c.18_25del and c.2185delC, and one nonsense mutation c.643G > T). Interestingly, the c.1905C > A variant was detected in four unrelated patients and may represent a common Brazilian Pompe mutation. the c.2560C > T severe mutation was frequent in our population suggesting a high prevalence in Brazil. Also, eight out of the 21 infantile-onset patients have two truncating mutations predicted to abrogate protein expression. of the ten late-onset patients who do not carry the common late-onset intronic mutation c.-32-13T > G, five (from three separate families) carry the recently described intronic mutation, c.-32-3C > A, and one sibpair carries the novel missense mutation c.1781G > C in combination with known severe mutation c.1941C > G. the association of these variants (c.1781G > C and c.-32-3C > A) with late-onset disease suggests that they allow for some residual activity in these patients. Our findings help to characterize Pompe disease in Brazil and support the need for additional studies to define the wide clinical and pathological spectrum observed in this disease.
URI: http://repositorio.unifesp.br/handle/11600/31915
ISSN: 0340-5354
Other Identifiers: http://dx.doi.org/10.1007/s00415-009-5219-y
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