A Case of IL-7R Deficiency Caused by a Novel Synonymous Mutation and Implications for Mutation Screening in SCID Diagnosis. [artículo]
Por: Gallego Bustos, Fernando [Inmunología]
| Delmiro Magdalena, Aitor [Bioquímica Clínica] | González Granados, Luis Ignacio [Pediatría] | Allende Martínez, Luis Miguel [Inmunología].
Colaborador(es): Servicio de Inmunología | Servicio de Pediatría-Neonatología | Instituto de Investigación imas12.
Tipo de material: 
ArtículoEditor: Frontiers in immunology, 2016Descripción: 7:443.Recursos en línea: Acceso libre Resumen: Reported synonymous substitutions are generally non-pathogenic, and rare pathogenic synonymous variants may be disregarded unless there is a high index of suspicion. In a case of IL7 receptor deficiency severe combined immunodeficiency (SCID), the relevance of a non-reported synonymous variant was only suspected through the use of additional in silico computational tools, which focused on the impact of mutations on gene splicing. The pathogenic nature of the variant was confirmed using experimental validation of the effect on mRNA splicing and IL7 pathway function. This case reinforces the need to use additional experimental methods to establish the functional impact of specific mutations, in particular for cases such as SCID where prompt diagnosis can greatly impact on diagnosis, treatment, and survival.
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Formato Vancouver:
Gallego Bustos F, Gotea V, Ramos Amador JT, Rodríguez Pena R, Gil Herrera J, Sastre A, Delmiro A, Rai G, Elnitski L, González Granado LI, Allende LM. A Case of IL-7R Deficiency Caused by a Novel Synonymous Mutation and Implications for Mutation Screening in SCID Diagnosis. Front Immunol. 2016 Oct 27;7:443.
PMID: 27833609
PMC5081475
Contiene 9 referencias
Reported synonymous substitutions are generally non-pathogenic, and rare pathogenic synonymous variants may be disregarded unless there is a high index of suspicion. In a case of IL7 receptor deficiency severe combined immunodeficiency (SCID), the relevance of a non-reported synonymous variant was only suspected through the use of additional in silico computational tools, which focused on the impact of mutations on gene splicing. The pathogenic nature of the variant was confirmed using experimental validation of the effect on mRNA splicing and IL7 pathway function. This case reinforces the need to use additional experimental methods to establish the functional impact of specific mutations, in particular for cases such as SCID where prompt diagnosis can greatly impact on diagnosis, treatment, and survival.
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