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dc.contributor.authorZanetti, Alessandrapt_BR
dc.contributor.authorD'Avanzo, Francescapt_BR
dc.contributor.authorAlSayed, M.pt_BR
dc.contributor.authorFacchin, Ana Carolina Brusiuspt_BR
dc.contributor.authorChien, Yin-Hsiupt_BR
dc.contributor.authorGiugliani, Robertopt_BR
dc.contributor.authorIzzo, Emanuelapt_BR
dc.contributor.authorKasper David C.pt_BR
dc.contributor.authorLin, Hsiang-Yupt_BR
dc.contributor.authorLin, Shuan-Peipt_BR
dc.contributor.authorPollard, Laura Malindapt_BR
dc.contributor.authorSingh, Akashdeeppt_BR
dc.contributor.authorTonin, Rodolfopt_BR
dc.contributor.authorWood, Tim J.pt_BR
dc.contributor.authorMarrone, Ameliapt_BR
dc.contributor.authorTomanin, Rosellapt_BR
dc.date.accessioned2022-01-27T04:34:57Zpt_BR
dc.date.issued2021pt_BR
dc.identifier.issn1098-1004pt_BR
dc.identifier.urihttp://hdl.handle.net/10183/234553pt_BR
dc.description.abstractMucopolysaccharidosis IVA (MPS IVA, Morquio A syndrome) is a rare autosomal recessive lysosomal storage disorder caused by mutations in the N-acetylgalactosamine-6-sulfatase (GALNS) gene. We collected, analyzed, and uniformly summarized all published GALNS gene variants, thus updating the previous mutation review (published in 2014). In addition, new variants were communicated by seven reference laboratories in Europe, the Middle East, Latin America, Asia, and the United States. All data were analyzed to determine common alleles, geographic distribution, level of homozygosity, and genotype-phenotype correlation. Moreover, variants were classified according to their pathogenicity as suggested by ACMG. Including those previously published, we assembled 446 unique variants, among which 68 were novel, from 1190 subjects (including newborn screening positive subjects). Variants' distribution was missense (65.0%), followed by nonsense (8.1%), splicing (7.2%), small frameshift deletions(del)/insertions(ins) (7.0%), intronic (4.0%), and large del/ins and complex rearrangements (3.8%). Half (50.4%) of the subjects were homozygous, 37.1% were compound heterozygous, and 10.7% had only one variant detected. The novel variants underwent in silico analysis to evaluate their pathogenicity. All variants were submitted to ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/) to make them publicly available. Mutation updates are essential for the correct molecular diagnoses, genetic counseling, prenatal and preimplantation diagnosis, and disease management.en
dc.format.mimetypeapplication/pdfpt_BR
dc.language.isoengpt_BR
dc.relation.ispartofHuman mutation. New York. Vol. 42 (2021), p. 1384–1398pt_BR
dc.rightsOpen Accessen
dc.subjectGALNSen
dc.subjectMucopolissacaridose IVpt_BR
dc.subjectRevisãopt_BR
dc.subjectLysosomal storage disorderen
dc.subjectMorquio A syndromeen
dc.subjectClassificaçãopt_BR
dc.subjectMutaçãopt_BR
dc.subjectMPS IVAen
dc.subjectMucopolysaccharidosis IVAen
dc.subjectDoenças por armazenamento dos lisossomospt_BR
dc.subjectN-acetylgalactosamine-6-sulfateen
dc.titleMolecular basis of mucopolysaccharidosis IVA (Morquio A syndrome) : a review and classification of GALNS gene variants and reporting of 68 novel variantspt_BR
dc.typeArtigo de periódicopt_BR
dc.identifier.nrb001136186pt_BR
dc.type.originEstrangeiropt_BR


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