Report of a young patient with brain calcifications with a novel homozygous MYORG variant

Autor(es)

Sadok, Sara H. ; Borges-Medeiros, Rayssa L. ; de Oliveira, Danyllo F. ; Zatz, Mayana ; de Oliveira, Joao Dicardo Mendes

• Tipo de documento: Artigo Científico
• Fonte: Gene; v. 859, p. 3-pg., 2023-01-30.

Resumo

Primary familial brain calcifications (PFBC) is characterized by bilateral and symmetrical deposition of inorganic phosphate, mainly in the basal ganglia, thalamus, cerebellum, and dentate nucleus. The symptoms resemble other neuropsychiatric conditions, such as Parkinsonism, dementia, migraine, and mood disorders. Pathogenic variants in six genes have been associated with this disorder, four linked to the autosomal dominant mode (SLC20A2, PDGFRB, PDGFB, and XPR1) and two linked to the recessive fashion (MYORG and JAM2). Herein, we report a young 24-year-old patient with a medical history of bilateral and symmetrical brain calcification and neuropsychiatric symptoms that include movement disturbances (chorea and dystonia), chronic migraine, unexplained tinnitus, and mood swings. After whole-exome sequencing, she was diagnosed with a novel homozygous MYORG variant (c.912_914del; p.(Ser305del)). In silico analysis showed that the variant is located on the extracellular domain of MYORG protein and is predicted to be disease-causing (likely pathogenic), implying that protein features might be affected. This study describes the second Brazilian case of MYORG PFBC-causative gene. Furthermore, it highlights the early age and onset of symptoms of the proband, especially in regard to movement disorders. (AU)

• Processo FAPESP: 21/05194-4 - Estudos sobre a fisiopatologia da Esclerose Lateral Amiotrófica tipo 8 através de modelos de células-tronco pluripotentes induzidas
• Beneficiário: Danyllo Felipe de Oliveira
• Modalidade de apoio: Bolsas no Brasil - Pós-Doutorado