Niemann-Pick Disease Type C: Mutation Spectrum and Novel Sequence Variations in the Human NPC1 Gene View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2019-02-28

AUTHORS

Márcia Polese-Bonatto, Hugo Bock, Ana Carolina S. Farias, Rafaella Mergener, Maria Cristina Matte, Mirela S. Gil, Felipe Nepomuceno, Fernanda T. S. Souza, Rejane Gus, Roberto Giugliani, Maria Luiza Saraiva-Pereira

ABSTRACT

Niemann-Pick type C (NP-C) is a rare autosomal recessive disorder characterized by storage of unesterified glycolipids and cholesterol in lysosome and/or late endosome due to mutations in either NPC1 or NPC2 gene. This study aims to identify the spectrum of sequence alterations associated to NP-C in individuals with clinical suspicion of this disease. The entire coding region and flanking sequences of both genes associated to NP-C were evaluated in a total of 265 individuals that were referred to our laboratory. Clinical and/or biochemical suspicion of NP-C was confirmed by molecular analysis in 54 subjects. In this cohort, 33 different sequence alterations were identified in NPC1 and one in NPC2. Among those, 5 novel alterations in NPC1 gene were identified as follows: one deletion (p.Lys38_Tyr40del), one frameshift (p.Asn195Lysfs*2), and three missense mutations (p.Cys238Arg, p.Ser365Pro and, p.Val694Met) that are likely to be pathogenic through different approaches, including in silico tools as well as multiple sequence alignment throughout different species. We have also reported main clinical symptoms of patients with novel alterations and distribution of frequent symptoms in the cohort. Findings reported here contribute to the knowledge of mutation spectrum of NP-C, defining frequent mutations as well as novel sequence alterations associated to the disease. More... »

PAGES

1-10

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/s12035-019-1528-z

DOI

http://dx.doi.org/10.1007/s12035-019-1528-z

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1112459715

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/30820861


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267 Serviço de Genética Médica, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil
268 rdf:type schema:Organization
269 https://www.grid.ac/institutes/grid.8532.c schema:alternateName Federal University of Rio Grande do Sul
270 schema:name Departamento de Bioquímica, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil
271 Departamento de Genética, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil
272 INAGEMP—Instituto Nacional de Genética Médica Populacional, Porto Alegre, RS, Brazil
273 Laboratório de Identificação Genética, Centro de Pesquisa Experimental, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil
274 Programa de Pós-Graduação em Biologia Celular e Molecular, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil
275 Programa de Pós-Graduação em Ciências Biológicas: Bioquímica, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil
276 Serviço de Genética Médica, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil
277 rdf:type schema:Organization
 




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