Novel dominant MPAN family with a complex genetic architecture as a basis for phenotypic variability.

ABSTRACT:

Objective

Our aim was to study a Hungarian family with autosomal dominantly inherited neurodegeneration with brain iron accumulation (NBIA) with markedly different intrafamilial expressivity.

Methods

Targeted sequencing and multiplex ligation-dependent probe amplification (MLPA) of known NBIA-associated genes were performed in many affected and unaffected members of the family. In addition, a trio whole-genome sequencing was performed to find a potential explanation of phenotypic variability. Neuropathologic analysis was performed in a single affected family member.

Results

The clinical phenotype was characterized by 3 different syndromes-1 with rapidly progressive dystonia-parkinsonism with cognitive deterioration, 1 with mild parkinsonism associated with dementia, a

SUBMITTER: Balicza P 

PROVIDER: S-EPMC7577556 | biostudies-literature | 2020 Oct

REPOSITORIES: biostudies-literature