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Brain calcifications and PCDH12 variants

Gaël Nicolas1, Monica Sanchez-Contreras1, Eliana Marisa Ramos1

  • 1Department of Genetics and CNR-MAJ (G.N., A.-C.R., O.Q.), Normandie Univ, UNIROUEN, Inserm U1245, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine, France; Department of Human Genetics (G.N.), Genome Research, Radboud UMC, Nijmegen, The Netherlands; Department of Neuroscience (M.S.-C., D.W.D., R.R.), Mayo Clinic, Jacksonville, FL; Department of Psychiatry (E.M.R., A.R.L., A.L., G.C., D.H.G.), Semel Institute for Neuroscience and Human Behavior, David Geffen School of Medicine, University of California Los Angeles; Keizo Asami Laboratory (R.R.L., J.F., D.M., J.R.M.d.O), Federal University of Pernambuco, Recife, Brazil; Fundación Pública Galega de Medicina Xenómica (M.J.S.), Clinical University Hospital of Santiago de Compostela-SERGAS, Spain; Centre National de Recherche en Génomique Humaine (CNRGH) (J.-F.D., A.B.), Institut de Biologie François Jacob, CEA, Evry; Department of Neurology (P.K.), Amiens University Hospital; Department of Neurology (P.F.), Tenon Hospital, AP-HP, Paris, France; Medical Genetics MRI Unit (R.S., E.L.-L.), Shaare Zedek Medical Center; Hebrew University-Hadassah School of Medicine (R.S., E.L.-L.); and Neuropsychiatry Department (J.R.M.d.O), Universidade Federal de Pernambuco, Recife, Brazil.

Neurology. Genetics
|August 15, 2017
PubMed

Insights

Brain calcifications are now linked to PCDH12 gene variants. A patient with a homozygous PCDH12 variant showed specific brain calcifications, expanding the known effects of PCDH12 loss of function.

Area of Science:

  • Genetics
  • Neurology
  • Medical Imaging

Background:

  • Primary familial brain calcification (PFBC) and brain calcification of unknown cause (BCUC) are neurological disorders.
  • The PCDH12 gene's role in brain development and calcification is not fully understood.

Purpose of the Study:

  • To investigate the association between PCDH12 gene variants and brain calcifications.
  • To characterize the phenotype in a patient with a homozygous nonsense variant in PCDH12.

Main Methods:

  • Computed tomography (CT) scan of a child with a homozygous PCDH12 nonsense variant.
  • DNA screening of 53 PFBC patients and 26 BCUC patients for PCDH12 variants.

Main Results:

  • Brain calcifications were identified in subcortical and perithalamic regions in the patient with the homozygous PCDH12 variant.
  • The observed calcification pattern differed from typical PFBC and resembled in utero infections.
  • No protein-truncating PCDH12 variants were found in PFBC or BCUC patients; three rare heterozygous missense variants were identified without segregation data.

Conclusions:

  • Biallelic loss-of-function variants in PCDH12 are associated with brain calcifications and severe cerebral developmental abnormalities.
  • PCDH12 variants may play a role in PFBC, warranting further investigation.
Abstract

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