Neuropathy target esterase impairments cause Oliver-McFarlane and Laurence-Moon syndromes.

ABSTRACT:

Background

Oliver-McFarlane syndrome is characterised by trichomegaly, congenital hypopituitarism and retinal degeneration with choroidal atrophy. Laurence-Moon syndrome presents similarly, though with progressive spinocerebellar ataxia and spastic paraplegia and without trichomegaly. Both recessively inherited disorders have no known genetic cause.

Methods

Whole-exome sequencing was performed to identify the genetic causes of these disorders. Mutations were functionally validated in zebrafish pnpla6 morphants. Embryonic expression was evaluated via in situ hybridisation in human embryonic sections. Human neurohistopathology was performed to characterise cerebellar degeneration. Enzymatic activities were measured in patient-derived fibroblast cell lines.

Results

Eight

SUBMITTER: Hufnagel RB 

PROVIDER: S-EPMC8108008 | biostudies-literature | 2015 Feb

REPOSITORIES: biostudies-literature