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PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
11
pubmed:dateCreated
2009-10-23
pubmed:abstractText
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.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Nov
pubmed:issn
1432-1459
pubmed:author
pubmed-author:AmadoVeronica MVM, pubmed-author:AndradeFernanda GFG, pubmed-author:BerditchevskyCélia RCR, pubmed-author:CameloJosé SJSJr, pubmed-author:CiociolaKristina MKM, pubmed-author:FrotaElizabeth R CER, pubmed-author:GrzesiukAnderson KAK, pubmed-author:GutierrezPaulo SPS, pubmed-author:HatemThamine PTP, pubmed-author:HorovitzDafneD, pubmed-author:KouyoumdjianJoão ArisJA, pubmed-author:LlerenaJuan CJCJr, pubmed-author:MarieSuely K NSK, pubmed-author:MarroneCarlo DCD, pubmed-author:MattalianoRobert JRJ, pubmed-author:MunozVerônicaV, pubmed-author:Oba-ShinjoSueli MSM, pubmed-author:PalmerRachel ERE, pubmed-author:PecchiniRogerioR, pubmed-author:PomponioRobert JRJ, pubmed-author:PortaGildaG, pubmed-author:S CarvalhoMaryM, pubmed-author:SobreiraClaudiaC, pubmed-author:WerneckLineuL, pubmed-author:da SilvaRoseliR
pubmed:issnType
Electronic
pubmed:volume
256
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
1881-90
pubmed:meshHeading
pubmed:year
2009
pubmed:articleTitle
Pompe disease in a Brazilian series: clinical and molecular analyses with identification of nine new mutations.
pubmed:affiliation
Myopathies and Molecular Biology Group, Department of Neurology, School of Medicine, University of São Paulo, Av Dr Arnaldo, 455, 4th Floor, Room 4110, São Paulo, SP 01246-903, Brazil.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't