Profound intellectual disability caused by homozygous TRAPPC9 pathogenic variant in a man from Malta.

ABSTRACT:

Background

Intellectual disability is a complex multi-faceted condition with diverse underlying etiologies. One rare form of intellectual disability is secondary to the loss of TRAPPC9, an activator of NF-κB and a mediator of intracellular protein processing and trafficking. TRAPPC9 deficiency has been described in 48 patients with more than 15 pathologic variants.

Method

Clinical evaluation, magnetic resonance imaging, and whole-exome sequencing were used to characterize the underlying cause of absent speech, restricted/repetitive behaviors, and worsening behavioral outbursts in 27-year-old man from Malta.

Results

Magnetic Resonance Imaging showed morphologic abnormalities, including global cerebral and cerebellar hypoplasia. Genetic analysis through Whole Exome Sequ

SUBMITTER: Wilton KM 

PROVIDER: S-EPMC7216808 | biostudies-literature | 2020 May

REPOSITORIES: biostudies-literature