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CTNS Molecular Genetics Profile in a Portuguese Cystinosis Population

2018-12-28Journal article Open access
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dc.contributor.authorFerreira, Filipa
dc.contributor.authorLeal, Inês
dc.contributor.authorSousa, David
dc.contributor.authorCosta, Teresa
dc.contributor.authorMota, Conceição
dc.contributor.authorGomes, Ana Marta
dc.contributor.authorLopes, Daniela
dc.contributor.authorCarmo Macário, Maria do
dc.contributor.authorTavares, Isabel
dc.contributor.authorPinto, Helena
dc.contributor.authorOliveira, João Paulo
dc.contributor.authorMagriço, Rita
dc.contributor.authorCarmona, Célia
dc.contributor.authorRamos, Sónia
dc.contributor.authorNeiva, Raquel
dc.contributor.authorMarcão, Ana
dc.contributor.authorVilarinho, Laura
dc.date.accessioned2019-03-25T17:29:16Z
dc.date.available2019-03-25T17:29:16Z
dc.date.issued2018-12-28
dc.description.abstractBackground: Cystinosis is a multisystemic autosomal recessive deficiency of the lysosomal membrane transporter protein (cystinosin) caused by mutations in CTNS gene. Objective : This study summarizes the Portuguese experience in the diagnosis and management of patients with this rare disease over the past few years and reports recurrent mutations in the CTNS gene . Methods : Unrelated patients from different pediatric and adult hospitals all over Portugal with non-nephrotic proteinuria, hypercalciuria, hypokalemia impaired proximal reabsorption of amino acids, glycosuria and hypophosphatemia, suggestive of a Fanconi syndrome and ocular problems, were studied. Intra-leukocyte cystine levels were determined and molecular analysis was performed, to determine the presence or absence of the 57-kb deletion in CTNS , followed by direct sequencing of the coding exons of CTNS . Results : From 1998 to 2017, twenty-one cystinotic patients were biochemically diagnosed. From the remaining seventeen (four deceased), eleven were studied for CTNS gene. Five out of eleven patients were homozygous for the 57-kb deletion (10/22; 45.5%), and other five were compound heterozygous for this variant (15/22; 68.2%). The other mutations found were p.Q128X (c.721 C>T; 2/22), p.S139F (c.755 C>T; 4/22) and c.18-21delGACT (p.T7FfsX7; 1/22). All of these seventeen cystinotic patients are in treatment. Approximately 84% are adults, 16% are young children, and 54.5% are kidney transplant recipient. Conclusions: The authors would like to emphasize the importance of first screening for the 57-kb deletion since it is very common in our population. This genetic study is the first in our country and it could be the basis for future genetic counseling in Portuguese population.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationOpen J Genet. 2018;8(4):91-100. doi:10.4236/ojgen.2018.84008pt_PT
dc.identifier.doi10.4236/ojgen.2018.84008pt_PT
dc.identifier.issn2162-4453
dc.identifier.urihttp://hdl.handle.net/10400.18/6305
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherScientific Research Publishingpt_PT
dc.relation.publisherversionhttps://file.scirp.org/Html/1-1370323_89862.htmpt_PT
dc.rights.urihttp://creativecommons.org/licenses/by-nc/4.0/pt_PT
dc.subjectCystinosispt_PT
dc.subjectCTNS Genept_PT
dc.subjectMutational Spectrumpt_PT
dc.subjectKidney Failurept_PT
dc.subject57-kbpt_PT
dc.subjectDeletionpt_PT
dc.subjectMolecular Genetics Profilept_PT
dc.subjectPortuguese Populationpt_PT
dc.subjectDoenças Genéticaspt_PT
dc.titleCTNS Molecular Genetics Profile in a Portuguese Cystinosis Populationpt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.endPage100pt_PT
oaire.citation.issue4pt_PT
oaire.citation.startPage91pt_PT
oaire.citation.titleOpen Journal of Geneticspt_PT
oaire.citation.volume8pt_PT
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT

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