SYNJ1 gene associated with neonatal onset of neurodegenerative disorder and intractable seizure.

ABSTRACT:

Background

Synaptojanin 1 is encoded by the SYNJ1(MIM 604297) and plays a major role in phosphorylation and recycling of synaptic vesicles. Mutation of SYNJ1 is associated with two distinct phenotypes; a known homozygous missense mutation (p.Arg258Gln) associated with early-onset Parkinson disease (MIM 615530), whereas mutation with complete loss of SYNJ1 function result in a lethal neurodegenerative disease with intractable seizure and tauopathies (MIM 617389).

Methods

We report two related children from consanguineous family presented with intractable seizure, profound developmental delay, failure to thrive, acquired microcephaly, and hypotonia. The brain MRI is normal and EEG showed hypsarrhythmia.

Result

The diagnosis was achieved via whole-genome sequencing which

SUBMITTER: Al Zaabi N 

PROVIDER: S-EPMC5823681 | biostudies-literature | 2018 Jan

REPOSITORIES: biostudies-literature