First pediatric case with primary familial brain calcification due to a novel variant on the MYORG gene and review of the literature

• Published in: Brain & development (Tokyo. 1979) 2021-08, Vol.43 (7), p.789-797
• Main Authors: Tekin Orgun, Leman, Besen, Şeyda, Sangün, Özlem, Bisgin, Atıl, Alkan, Özlem, Erol, İlknur
• Format: Article
• Language: English
• Subjects: Basal Ganglia Diseases - genetics; Basal Ganglia Diseases - pathology; Basal Ganglia Diseases - physiopathology; Calcinosis - genetics; Calcinosis - pathology; Calcinosis - physiopathology; Child; Childhood; Fahr disease; Female; Glycoside Hydrolases - genetics; Humans; Myogenesis-regulating glycosidase (MYORG) gene; Primary familial brain calcification
• ISSN: 0387-7604; 1872-7131
• DOI: 10.1016/j.braindev.2021.04.002

Variants in the myogenesis-regulating glycosidase (MYORG) gene which is known as the first autosomal recessive gene that has been associated with primary familial brain calcification (AR-PFBC). Although adult patients have been reported, no pediatric case has been reported until now. Herein, we review the clinical and radiological features of all AR- PFBC patients with biallelic variants in the MYORG gene who were reported until now, and we report the youngest patient who has a novel homozygous variant. Since the first identification of the MYORG gene in 2018, 74cases of MYORG variants related to AR-PFBC were evaluated. The ages of symptom onset of the patients ranged between 7.5 and 87 years. The most frequent clinical courses were speech impairment, movement disorder and cerebellar signs. All patients showed basal ganglia calcification usually bilaterally with different severities. Conclusion; herein, we reported the first pediatric patient in the literature who had a novel homozygous variant in the MYORG gene with mild clinic findings.