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Clinical and Molecular Characterization of Diastrophic Dysplasia in the Portuguese Population

2011Journal article Open access
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dc.contributor.authorBarbosa, M
dc.contributor.authorSousa, AB
dc.contributor.authorMedeira, A
dc.contributor.authorLourenço, T
dc.contributor.authorSaraiva, J
dc.contributor.authorPinto-Basto, J
dc.contributor.authorSoares, G
dc.contributor.authorFortuna, AM
dc.contributor.authorSuperti-Furga, A
dc.contributor.authorMittaz, L
dc.contributor.authorReis-Lima, M
dc.contributor.authorBonafé, L
dc.date.accessioned2016-05-11T12:00:01Z
dc.date.available2016-05-11T12:00:01Z
dc.date.issued2011
dc.description.abstractSLC26A2-related dysplasias encompass a spectrum of diseases: from lethal achondrogenesis type 1B (ACG1B; MIM #600972) and atelosteogenesis type 2 (AO2; MIM #256050) to classical diastrophic dysplasia (cDTD; MIM #222600) and recessive multiple epiphyseal dysplasia (rMED; MIM #226900). This study aimed at characterizing clinically, radiologically and molecularly 14 patients affected by non-lethal SLC26A2-related dysplasias and at evaluating genotype-phenotype correlation. Phenotypically, eight patients were classified as cDTD, four patients as rMED and two patients had an intermediate phenotype (mild DTD - mDTD, previously 'DTD variant'). The Arg279Trp mutation was present in all patients, either in homozygosity (resulting in rMED) or in compound heterozygosity with the known severe alleles Arg178Ter or Asn425Asp (resulting in DTD) or with the mutation c.727-1G>C (causing mDTD). The 'Finnish mutation', c.-26+2T>C, and the p.Cys653Ser, both frequent mutations in non-Portuguese populations, were not identified in any of the patients of our cohort and are probably very rare in the Portuguese population. A targeted mutation analysis for p.Arg279Trp and p.Arg178Ter in the Portuguese population allows the identification of approximately 90% of the pathogenic alleles.pt_PT
dc.identifier.citationClin Genet. 2011 Dec;80(6):550-7pt_PT
dc.identifier.urihttp://hdl.handle.net/10400.17/2483
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherWiley-Liss, Inc.pt_PT
dc.subjectDwarfism/diagnosispt_PT
dc.subjectDwarfism/epidemiologypt_PT
dc.subjectDwarfism/geneticspt_PT
dc.subjectGenetic Testingpt_PT
dc.subjectOsteochondrodysplasias/diagnosispt_PT
dc.subjectOsteochondrodysplasias/geneticspt_PT
dc.subjectPhenotypept_PT
dc.subjectCohort Studiespt_PT
dc.subjectAdolescentpt_PT
dc.subjectChildpt_PT
dc.subjectPortugalpt_PT
dc.subjectHDE GENpt_PT
dc.titleClinical and Molecular Characterization of Diastrophic Dysplasia in the Portuguese Populationpt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.endPage557pt_PT
oaire.citation.issue6pt_PT
oaire.citation.startPage550pt_PT
oaire.citation.volume80pt_PT
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT

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