Behr syndrome and hypertrophic cardiomyopathy in a family with a novel UCHL1 deletion.

ABSTRACT:

Background

Behr syndrome is a clinically distinct, but genetically heterogeneous disorder characterized by optic atrophy, progressive spastic paraparesis, and motor neuropathy often associated with ataxia. The molecular diagnosis is based on gene panel testing or whole-exome/genome sequencing.

Methods

Here, we report the clinical presentation of two siblings with a novel genetic form of Behr syndrome. We performed whole-exome sequencing in the two patients and their mother.

Results

Both patients had a childhood-onset, slowly progressive disease resembling Behr syndrome, starting with visual impairment, followed by progressive spasticity, weakness, and atrophy of the lower legs and ataxia. They also developed scoliosis, leading to respiratory problems. In their late 30

SUBMITTER: McMacken G 

PROVIDER: S-EPMC7674332 | biostudies-literature | 2020 Dec

REPOSITORIES: biostudies-literature