Skip to main content
eScholarship
Open Access Publications from the University of California

UCLA

UCLA Previously Published Works bannerUCLA

Brain calcifications and PCDH12 variants.

  • Author(s): Nicolas, Gaël;
  • Sanchez-Contreras, Monica;
  • Ramos, Eliana Marisa;
  • Lemos, Roberta R;
  • Ferreira, Joana;
  • Moura, Denis;
  • Sobrido, Maria J;
  • Richard, Anne-Claire;
  • Lopez, Alma Rosa;
  • Legati, Andrea;
  • Deleuze, Jean-François;
  • Boland, Anne;
  • Quenez, Olivier;
  • Krystkowiak, Pierre;
  • Favrole, Pascal;
  • Geschwind, Daniel H;
  • Aran, Adi;
  • Segel, Reeval;
  • Levy-Lahad, Ephrat;
  • Dickson, Dennis W;
  • Coppola, Giovanni;
  • Rademakers, Rosa;
  • de Oliveira, João RM
  • et al.
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 no protein-truncating variant and 3 rare (minor allele frequency <0.001) PCDH12 predicted damaging missense heterozygous variants in 3 unrelated patients, albeit with no segregation data available.

Conclusions

Brain calcifications should be added to the phenotypic spectrum associated with PCDH12 biallelic loss of function, in the context of severe cerebral developmental abnormalities. A putative role for PCDH12 variants remains to be determined in PFBC.

Many UC-authored scholarly publications are freely available on this site because of the UC's open access policies. Let us know how this access is important for you.

Main Content
For improved accessibility of PDF content, download the file to your device.
Current View