Multifocal demyelinating motor neuropathy and hamartoma syndrome associated with a de novo PTEN mutation.

ABSTRACT:

Objective

To describe a patient with a multifocal demyelinating motor neuropathy with onset in childhood and a mutation in phosphatase and tensin homolog (PTEN), a tumor suppressor gene associated with inherited tumor susceptibility conditions, macrocephaly, autism, ataxia, tremor, and epilepsy. Functional implications of this protein have been investigated in Parkinson and Alzheimer diseases.

Methods

We performed whole-exome sequencing in the patient's genomic DNA validated by Sanger sequencing. Immunoblotting, in vitro enzymatic assay, and label-free shotgun proteomic profiling were performed in the patient's fibroblasts.

Results

The predominant clinical presentation of the patient was a childhood onset, asymmetric progressive multifocal motor neuropathy. In

SUBMITTER: Bansagi B 

PROVIDER: S-EPMC5962916 | biostudies-literature | 2018 May

REPOSITORIES: biostudies-literature