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MYORG Mutation Heterozygosity Is Associated With Brain Calcification.

You Chen1,2, Zhidong Cen1,2, Xinhui Chen1

  • 1Department of Neurology, The Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China.

Movement Disorders : Official Journal of the Movement Disorder Society
|January 18, 2020
PubMed
Summary

Single MYORG gene mutations can cause brain calcifications, even in carriers who inherit only one copy. This suggests a semidominant inheritance pattern for primary familial brain calcification.

Keywords:
MYORGheterozygosityprimary familial brain calcification

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Area of Science:

  • Genetics
  • Neurology
  • Medical research

Background:

  • Biallelic mutations in the MYORG gene cause primary familial brain calcification (PFBC).
  • Some heterozygous carriers of MYORG mutations also display brain calcifications, suggesting a broader role.

Purpose of the Study:

  • To investigate the role of single heterozygous MYORG mutations in PFBC development.
  • To expand understanding of genotype-phenotype correlations in MYORG-related PFBC.

Main Methods:

  • A nationwide cohort of 435 Chinese PFBC probands was analyzed.
  • MYORG gene mutational analysis was performed in patients negative for mutations in other known PFBC genes.
  • Genetic analysis included probands and their family members.

Main Results:

  • Biallelic MYORG mutations found in 14 patients; 12 heterozygous carriers also had brain calcifications.
  • Single heterozygous mutations detected in 9 probands and 7 affected family members.
  • Heterozygous carriers showed reduced imaging penetrance (73.7%) and much lower clinical penetrance, with most remaining asymptomatic.

Conclusions:

  • Heterozygous MYORG mutations are associated with brain calcifications, indicating a semidominant inheritance pattern with incomplete penetrance.
  • This expands the known genotype-phenotype spectrum for MYORG-related PFBC.