Utilize este identificador para referenciar este registo: http://hdl.handle.net/10400.18/4286
Título: Solving a case of allelic dropout in the GNPTAB gene: implications in the molecular diagnosis of mucolipidosis type III alpha/beta
Autor: Coutinho, Maria Francisca
Encarnação, Marisa
Laranjeira, Francisco
Lacerda, Lúcia
Prata, Maria João
Alves, Sandra
Palavras-chave: Allelic Dropout
Genotype-phenotype Correlation
ML III alpha/beta
Molecular Genetic Testing
Nonsense Mediated mRNA Decay
Doenças Genéticas
Data: 21-Out-2016
Editora: De Gruyter/ Freund Publishing House
Citação: J Pediatr Endocrinol Metab. 2016 Oct 1;29(10):1225-1228. doi: 10.1515/jpem-2016-0173
Resumo: While being well known that the diagnosis of many genetic disorders relies on a combination of clinical suspicion and confirmatory genetic testing, not rarely, however, genetic testing needs much perseverance and cunning strategies to identify the causative mutation(s). Here we present a case of a thorny molecular diagnosis of mucolipidosis type III alpha/beta, which is an autosomal recessive lysosomal storage disorder, caused by a defect in the GNPTAB gene that codes for the α/β-subunits of the GlcNAc-1-phosphotransferase. We used both cDNA and gDNA analyses to characterize a mucolipidosis type III alpha/beta patient whose clinical diagnosis was already confirmed biochemically. In a first stage only one causal mutation was identified in heterozygosity, the already described missense mutation c.1196C>T(p.S399F), both at cDNA and gDNA levels. Only after conducting inhibition of nonsense-mediated mRNA decay (NMD) assays and after the utilization of another pair of primers the second mutation, the c.3503_3504delTC deletion, was identified. Our findings illustrate that allelic dropout due to the presence of polymorphisms and/or of mutations that trigger the NMD pathway can cause difficulties in current molecular diagnosis tests.
Peer review: yes
URI: http://hdl.handle.net/10400.18/4286
DOI: 10.1515/jpem-2016-0173
ISSN: 0334-018X
Versão do Editor: https://www.degruyter.com/view/j/jpem.2016.29.issue-10/jpem-2016-0173/jpem-2016-0173.xml
Aparece nas colecções:DGH - Artigos em revistas internacionais

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