UFM1 founder mutation in the Roma population causes recessive variant of H-ABC.

ABSTRACT:

Objective

To identify the gene defect in patients with hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) who are negative for TUBB4A mutations.

Methods

We performed homozygosity mapping and whole exome sequencing (WES) to detect the disease-causing variant. We used a Taqman assay for population screening. We developed a luciferase reporter construct to investigate the effect of the promoter mutation on expression.

Results

Sixteen patients from 14 families from different countries fulfilling the MRI criteria for H-ABC exhibited a similar, severe clinical phenotype, including lack of development and a severe epileptic encephalopathy. The majority of patients had a known Roma ethnic background. Single nucleotide polymorphism array analysis i

SUBMITTER: Hamilton EMC 

PROVIDER: S-EPMC5664304 | biostudies-literature | 2017 Oct

REPOSITORIES: biostudies-literature