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Prominent sensorimotor neuropathy due to SACS mutations revealed by whole-exome sequencing
Angela Pyle1, Helen Griffin, Patrick Yu-Wai-Man
1Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, England.
Objective:
To determine the genetic basis of an unexplained multisystem neurological disorder affecting 2 siblings.
Design:
Case reports and whole-exome DNA sequencing.
Setting:
Neurogenetics clinic, Institute of Genetic Medicine, Newcastle upon Tyne, England.
Patients:
Two adult siblings with a sensorimotor neuropathy, ataxia, and spasticity.
Main Outcome Measures:
Clinical, neurophysiological, imaging, and genetic data.
Results:
Novel compound heterozygous frameshift mutations were detected in the SACS gene of both siblings, predicted to drastically truncate the sacsin protein.
Conclusions:
Whole-exome sequencing rapidly defined the genetic cause of the disorder, expanding the clinical phenotype associated with SACS mutations to include a severe sensorimotor neuropathy.
