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Origin and spread of a common deletion causing mucolipidosis type II: insights from patterns of haplotypic diversity

2010-09Journal article Restricted access
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dc.contributor.authorCoutinho, Maria Francisca
dc.contributor.authorEncarnação, M.
dc.contributor.authorGomes, R.
dc.contributor.authorDa Silva Santos, L.
dc.contributor.authorMartins, S.
dc.contributor.authorSirois-Gagnon, D.
dc.contributor.authorBargal, R.
dc.contributor.authorFilocamo, M.
dc.contributor.authorRaas-Rothschild, A.
dc.contributor.authorTappino, B.
dc.contributor.authorLaprise, C.
dc.contributor.authorCuryg, G.K.
dc.contributor.authorSchwartz, I.
dc.contributor.authorArtigalás, O.
dc.contributor.authorPrata, M.
dc.contributor.authorAlves, Sandra
dc.date.accessioned2011-09-13T16:43:29Z
dc.date.available2011-09-13T16:43:29Z
dc.date.issued2010-09
dc.descriptionVersão impressa: Clin Genet. 2011 Sep;80(3):273-280por
dc.description.abstractMucolipidosis II (ML II alpha/beta), or I-cell disease, is a rare genetic disease in which activity of the uridine diphosphate (UDP)-N-acetylglucosamine:lysosomal enzyme N-acetylglucosamine-1-phosphotransferase (GlcNAc-phosphotransferase) is absent. GlcNAc-phosphotransferase is a multimeric enzyme encoded by two genes, GNPTAB and GNPTG. A spectrum of mutations in GNPTAB has been recently reported to cause ML II alpha/beta. Most of these mutations were found to be private or rare. However, the mutation c.3503_3504delTC has been detected among Israeli and Palestinian Arab-Muslim, Turkish, Canadian, Italian, Portuguese, Irish traveller and US patients. We analysed 44 patients who were either homozygous or compound heterozygous for this deletion (22 Italians, 8 Arab-Muslims, 1 Turk, 3 Argentineans, 3 Brazilians, 2 Irish travellers and 5 Portuguese) and 16 carriers (15 Canadians and 1 Italian) for three intragenic polymorphisms: c.-41_-39delGGC, c.18G>A and c.1932A>G as well as two microsatellite markers flanking the GNPTAB gene (D12S1607 and D12S1727). We identified a common haplotype in all chromosomes bearing the c.3503_3504delTC mutation. In summary, we showed that patients carrying the c.3503_3504delTC deletion presented with a common haplotype, which implies a common origin of this mutation. Additionally, the level of diversity observed at the most distant locus indicates that the mutation is relatively ancient (around 2063 years old), and the geographical distribution further suggests that it probably arose in a peri-Mediterranean region.por
dc.identifier.citationClin Genet. 2010 Sep. 29. doi: 10.1111/j.1399-0004.2010.01539.xpor
dc.identifier.otherESSN: 1399-0004
dc.identifier.urihttp://hdl.handle.net/10400.18/158
dc.language.isoengpor
dc.peerreviewedyespor
dc.publisherWileypor
dc.relation.publisherversionhttp://onlinelibrary.wiley.com/doi/10.1111/j.1399-0004.2010.01539.x/fullpor
dc.subjectc.3503_3504delTCpor
dc.subjectCommon originpor
dc.subjectHaplotypic analysispor
dc.subjectMucolipidosispor
dc.subjectDoenças Genéticaspor
dc.titleOrigin and spread of a common deletion causing mucolipidosis type II: insights from patterns of haplotypic diversitypor
dc.typejournal article
dspace.entity.typePublication
oaire.citation.endPage280por
oaire.citation.startPage273por
oaire.citation.titleClinical Geneticspor
rcaap.rightsrestrictedAccesspor
rcaap.typearticlepor

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