Brain calcifications and PCDH12 variants.

ABSTRACT:

Objective

To assess the potential connection between PCDH12 and brain calcifications in a patient carrying a homozygous nonsense variant in PCDH12 and in adult patients with brain calcifications.

Methods

We performed a CT scan in 1 child with a homozygous PCDH12 nonsense variant. We screened DNA samples from 53 patients with primary familial brain calcification (PFBC) and 26 patients with brain calcification of unknown cause (BCUC).

Results

We identified brain calcifications in subcortical and perithalamic regions in the patient with a homozygous PCDH12 nonsense variant. The calcification pattern was different from what has been observed in PFBC and more similar to what is described in in utero infections. In patients with PFBC or BCUC, we found n

SUBMITTER: Nicolas G 

PROVIDER: S-EPMC5530423 | biostudies-literature | 2017 Aug

REPOSITORIES: biostudies-literature