Idiopathic basal ganglia calcification associated with new <i>MYORG</i> mutation site: A case report

Fei, Beini; Su, Hui-Zhen; Ding, Jing; Wang, Xin

doi:10.12998/wjcc.v9.i24.7169

Cited by 4 publications

(3 citation statements)

References 11 publications

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“…We searched through PubMed until April 1, 2023 for relevant studies and scanned the reference lists in the identified articles. We reviewed all reported cases of PFBC with biallelic MYORG mutations and summarized all the mutation sites in Table 1 (Arkadir et al, 2019 ; Chelban et al, 2020 ; Chen, Lin, et al, 2020 ; Chen, Cen, et al, 2020 ; Chen et al, 2019 ; Fei et al, 2021 ; Ferreira & de Oliveira, 2019 ; Forouhideh et al, 2019 ; Gao et al, 2022 ; Grangeon et al, 2019 ; Kume et al, 2020 ; Li et al, 2022 ; Liu et al, 2021 ; Malaquias et al, 2020 ; Peng et al, 2018 ; Ramos et al, 2019 ; Sadok et al, 2023 ; Saranza et al, 2020 ; Taglia et al, 2019 ; Tekin et al, 2021 ; Tsai et al, 2022 ; Yang et al, 2022 ; Yao et al, 2018 ; Zeng et al, 2021 ). Data for 62 families have been reported, 51% of the patients were men and 49% were women.…”

Section: Resultsmentioning

confidence: 99%

Fahr's disease linked to a novel mutation in MYORG variants manifesting as paroxysmal limb stiffness and dysarthria: Case report and literature review

Zhao,

Xu,

Liu

et al. 2023

Molec Gen & Gen Med

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BackgroundPrimary familial brain calcification (PFBC) is a rare hereditary neurodegenerative disorder associated with the MYORG gene; however, the clinical and radiological characteristics of MYORG‐PFBC remain unclear.MethodsWe present relevant medical data obtained from a patient affected by PFBC with a novel MYORG variant and conducted a mutational analysis of MYORG in her family members. We reviewed all reported PFBC cases with biallelic MYORG mutations until April 1, 2023, and summarized the associated clinical and radiological features and mutation sites.ResultsThe patient (22‐year‐old woman) exhibited paroxysmal limb stiffness and dysarthria for 3 years. Computed tomography revealed calcifications in the paraventricular white matter, basal ganglia, thalamus, and cerebellum. Whole‐exome sequencing revealed a novel homozygous frameshift variant (c.743delG: p.G248Afs*32) in exon 2 of the MYORG gene (NM_020702.5). To date, 62 families and 64 mutation sites have been reported. Among the reported biallelic MYORG mutations, 57% were homozygous and 43% were compound heterozygous. Individuals with biallelic MYORG mutations experience more severe brain calcification with approximately 100% clinical penetrance. Ten single heterozygous mutation sites are associated with significant brain calcifications.ConclusionAll patients with primary brain calcification, particularly younger patients without a family history of the disease, should be screened for MYORG mutations.

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Section: Resultsmentioning

confidence: 99%

Fahr's disease linked to a novel mutation in MYORG variants manifesting as paroxysmal limb stiffness and dysarthria: Case report and literature review

Zhao,

Xu,

Liu

et al. 2023

Molec Gen & Gen Med

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“…In addition, we found that 9/42 of the mutations we summarized were loss-of-function (LOF) mutations, whereas 27/42 were missense mutations ( Figure 2A ). MYORG is specifically expressed in astrocytes, and may regulate protein glycosylation in the endoplasmic reticulum of brain astrocytes ( 8 , 13 , 15 ). Inactivation of the MYORG glycosidase function may lead to abnormal protein glycosylation and metabolism, which may lay the foundation for the formation of brain calcification ( 8 ).…”

Section: Discussionmentioning

confidence: 99%

A novel MYORG mutation causes primary familial brain calcification with migraine: Case report and literature review

Song

Zhao

Wen³

et al. 2023

Front. Neurol.

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Primary familial brain calcification (PFBC) is a disorder in which pathologic calcification of the basal ganglia, cerebellum, or other brain regions with bilateral symmetry occurs. Common clinical symptoms include dysarthria, cerebellar symptoms, motor deficits, and cognitive impairment. Genetic factors are an important cause of the disease; however autosomal recessive (AR) inheritance is rare. In 2018, the myogenesis-regulated glycosidase (MYORG) gene was the first to be associated with AR-PFBC. The present case is a 24-year-old woman with AR-PFBC that presented with migraine at the age of 16 years. Symmetrical patchy calcifications were seen in the bilateral cerebellopontine nuclei, thalamus, basal ganglia, and radiocoronal area on computed tomography and magnetic resonance imaging. AR-PFBC with migraine as the main clinical symptom is rare. Whole-exome sequencing revealed a compound heterozygous mutation in the MYORG gene, one of which has not been previously reported. Our case highlights the pathogenic profile of the MYORG gene, and demonstrates the need for exclusion of calcium deposits in the brain for migraine patients with AR inheritance.

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“…The missense change is the most common variant type in the MYORG gene, followed by in-frame indels, nonsense, and frameshift variations. There is no obvious hotspot of pathogenic variants ( Figure 1 e) [ 3 , 10 , 22 , 24 , 25 , 26 , 27 , 30 , 108 , 109 , 110 , 111 , 112 , 113 , 114 , 115 , 116 , 117 , 118 ]. Pathogenic variants cause the loss of the glycosidase function of MYORG , which may lead to abnormal protein glycosylation and metabolic disturbance.…”

Section: Genetics and Disease Mechanismmentioning

confidence: 99%

The Genetics of Primary Familial Brain Calcification: A Literature Review

Chen

et al. 2023

IJMS

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Primary familial brain calcification (PFBC), also known as Fahr’s disease, is a rare inherited disorder characterized by bilateral calcification in the basal ganglia according to neuroimaging. Other brain regions, such as the thalamus, cerebellum, and subcortical white matter, can also be affected. Among the diverse clinical phenotypes, the most common manifestations are movement disorders, cognitive deficits, and psychiatric disturbances. Although patients with PFBC always exhibit brain calcification, nearly one-third of cases remain clinically asymptomatic. Due to advances in the genetics of PFBC, the diagnostic criteria of PFBC may need to be modified. Hitherto, seven genes have been associated with PFBC, including four dominant inherited genes (SLC20A2, PDGFRB, PDGFB, and XPR1) and three recessive inherited genes (MYORG, JAM2, and CMPK2). Nevertheless, around 50% of patients with PFBC do not have pathogenic variants in these genes, and further PFBC-associated genes are waiting to be identified. The function of currently known genes suggests that PFBC could be caused by the dysfunction of the neurovascular unit, the dysregulation of phosphate homeostasis, or mitochondrial dysfunction. An improved understanding of the underlying pathogenic mechanisms for PFBC may facilitate the development of novel therapies.

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Idiopathic basal ganglia calcification associated with new MYORG mutation site: A case report

Cited by 4 publications

References 11 publications

Fahr's disease linked to a novel mutation in MYORG variants manifesting as paroxysmal limb stiffness and dysarthria: Case report and literature review

Fahr's disease linked to a novel mutation in MYORG variants manifesting as paroxysmal limb stiffness and dysarthria: Case report and literature review

A novel MYORG mutation causes primary familial brain calcification with migraine: Case report and literature review

The Genetics of Primary Familial Brain Calcification: A Literature Review

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