a case of il-7r deficiency caused by a novel synonymous mutation and implications for mutation screening in scid diagnosis.

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ID: 170042
2016
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Abstract
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 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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gallego-bustos2016frontiersa Use this key to autocite in the manuscript while using SciMatic Manuscript Manager or Thesis Manager
Authors ;FERNANDO GALLEGO-BUSTOS;VALER GOTEA;JOSE T RAMOS-AMADOR;REBECA RODRIGUEZ-PENA;JUANA GIL;ANA SASTRE;AITOR DELMIRO;GHADI RAI;LAURA ELNITSKI;LUIS I GONZÁLEZ-GRANADO;LUIS M ALLENDE
Journal sudebno-meditsinskaia ekspertiza
Year 2016
DOI
10.3389/fimmu.2016.00443
URL
http://journal.frontiersin.org/Journal/10.3389/fimmu.2016.00443/full
Keywords
scid splicing primary immune deficiency allergy

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