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A deep intronic splice variant advises reexamination of presumably dominant SPG7 Cases.

Edgard VerduraAgatha SchlüterGorka Fernández-EulateRaquel Ramos-MartínMiren ZulaicaLaura Planas-SerraMontserrat RuizStéphane FourcadeCarlos CasasnovasAdolfo López de MunainAurora Pujol
Published in: Annals of clinical and translational neurology (2019)
Identification of a deep intronic variant in SPG7, which could only have been detected by performing WGS, led to a diagnosis in this HSP patient. This case challenges the notion of an autosomal dominant inheritance for SPG7, and illustrates the importance of performing WGS subsequently or alternatively to WES to find additional mutations, especially in patients carrying one variant in a gene causing a predominantly autosomal recessive disease.
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