Author Affiliations: Department of Neuroscience, Center for Neuromuscular Disorders, Catholic University of Sacred Heart (Drs Silvestri and Masciullo); IRCCS San Raffaele Pisana (Dr Masciullo), Rome; and Department of Neurogenetics, IRCCS Stella Maris–University of Pisa, Pisa (Dr Santorelli), Italy.
We read with interest the work by Pyle and colleagues1 where high-throughput whole-exome DNA sequencing was used to define the genetic basis of a Mendelian disorder with hitherto unknown etiology in a brother and sister. In that case, whole-exome DNA sequencing revealed 2 loss-of-function mutations in SACS as the cause of the neurologic illness in the patients. However, we believe that a few clarifications are needed because clinical presentations in the 2 siblings, if carefully weighted, appeared sufficient to pinpoint SACS earlier in the diagnostic process.
Silvestri G, Masciullo M, Santorelli FM. Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay in the Time of Next-Generation Sequencing. Arch Neurol. 2012;69(12):1661–1662. doi:https://doi.org/10.1001/2013.jamaneurol.70
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