Abstract
Primary familial brain calcification (PFBC) is a rare disorder mostly characterized by calcium deposits in the basal ganglia and a wide spectrum of neurologic and psychiatric symptoms, typically inherited as an autosomal dominant trait. Recently, MYORG was reported as the first autosomal recessive causal gene in PFBC patients of Chinese and Middle Eastern origin. Herein, we describe the first PFBC patient of European descent found to carry a novel homozygous MYORG mutation (p.N511Tfs*243). Interestingly, the patient’s father, a heterozygous carrier of the same mutation, showed diffuse bilateral cerebral calcifications with no symptoms other than very mild postural tremor.
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References
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Acknowledgments
The authors would like to thank the family who volunteered for this research study.
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We acknowledge the support of the Semel Institute for Neuroscience and Human Behavior at the University of California Los Angeles, the Eleanor Leslie Chair in Innovative Brain Research from the Brain Research Institute (to GC), and the NINDS Informatics Center for Neurogenetics and Neurogenomics (P30 NS062691).
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Ramos, E.M., Roca, A., Chumchim, N. et al. Primary familial brain calcification caused by a novel homozygous MYORG mutation in a consanguineous Italian family. Neurogenetics 20, 99–102 (2019). https://doi.org/10.1007/s10048-019-00571-8
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DOI: https://doi.org/10.1007/s10048-019-00571-8