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A novel de novo alteration in SLC12A6 in a patient with early onset severe progressive sensorimotor polyneuropathy and abnormal EEG

Clinical Genomics

Session:

#986

Date:

Thursday, Oct 19, 2017 2:00pm – 3:00pm

Conference:

Authors:

Deepali Shinde, Katalin Scherer, Kelly Radtke, Mari Rossi, Maureen Galindo, Zöe Powis

We identified the second patient with a monoallelic SLC12A6 alteration and neuropathy through exome sequencing.
Combining exome sequencing with RNA-sequencing or other complementary methods in patients with monoallelic SLC12A6 alterations may shed a light on the full clinical and mutational spectrum of the SLC12A6 gene.

Abstract Poster