Uncovering genetic mimics in multiple sclerosis: A single-center clinical exome sequencing study.

ABSTRACT:

Background

Multiple sclerosis (MS) shares clinical/radiological features with several monogenic diseases that can mimic MS.

Objective

We aimed to determine if exome sequencing can identify monogenic diseases in patients diagnosed with MS according to the McDonald criteria thus uncovering them as being misdiagnosed.

Methods

We performed whole exome sequencing in a cohort of 278 patients with MS, clinically or radiologically isolated syndrome without cerebrospinal fluid-specific oligoclonal bands (CSF-OCBs) (n = 228), a positive family history of MS (n = 44), or both (n = 6), thereby focusing on individuals potentially more likely to have underlying monogenic conditions mimicking MS. We prioritized 495 genes associated with monogenic diseases sharing features with MS.

SUBMITTER: Mandler JM 

PROVIDER: S-EPMC11273569 | biostudies-literature | 2024 Jul-Sep

REPOSITORIES: biostudies-literature