Primary familial brain calcification caused by a novel homozygous MYORG mutation in a consanguineous Italian family.

Autor: Ramos EM; Department of Psychiatry, David Geffen School of Medicine, University of California Los Angeles, 695 Charles E. Young Drive South, #3506C Gonda Neuroscience and Genetics Research Center, Los Angeles, CA, 90095, USA., Roca A; Department of Neurosciences and Reproductive and Odontostomatological Sciences, Federico II University, Naples, Italy., Chumchim N; Department of Psychiatry, David Geffen School of Medicine, University of California Los Angeles, 695 Charles E. Young Drive South, #3506C Gonda Neuroscience and Genetics Research Center, Los Angeles, CA, 90095, USA., Dokuru DR; Department of Psychiatry, David Geffen School of Medicine, University of California Los Angeles, 695 Charles E. Young Drive South, #3506C Gonda Neuroscience and Genetics Research Center, Los Angeles, CA, 90095, USA., Van Berlo V; Department of Psychiatry, David Geffen School of Medicine, University of California Los Angeles, 695 Charles E. Young Drive South, #3506C Gonda Neuroscience and Genetics Research Center, Los Angeles, CA, 90095, USA., De Michele G; Department of Neurosciences and Reproductive and Odontostomatological Sciences, Federico II University, Naples, Italy., Lieto M; Department of Neurosciences and Reproductive and Odontostomatological Sciences, Federico II University, Naples, Italy., Tedeschi E; Department of Advanced Biomedical Sciences, Federico II University, Naples, Italy., De Michele G; Department of Neurosciences and Reproductive and Odontostomatological Sciences, Federico II University, Naples, Italy., Coppola G; Department of Psychiatry, David Geffen School of Medicine, University of California Los Angeles, 695 Charles E. Young Drive South, #3506C Gonda Neuroscience and Genetics Research Center, Los Angeles, CA, 90095, USA. gcoppola@ucla.edu.
Jazyk: angličtina
Zdroj: Neurogenetics [Neurogenetics] 2019 May; Vol. 20 (2), pp. 99-102. Date of Electronic Publication: 2019 Mar 21.
DOI: 10.1007/s10048-019-00571-8
Abstrakt: 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.
Databáze: MEDLINE
Externí odkaz: