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

Article Biochemistry & Molecular Biology

The primary familial brain calcification-associated protein MYORG is an α-galactosidase with restricted substrate specificity

Richard W. Meek et al.

Summary: Primary familial brain calcification (PFBC) is a disease characterized by abnormal calcium phosphate deposits in the brain, which is associated with cognitive impairments and movement disorders. Recent studies have found a link between mutations in the MYORG gene and PFBC. MYORG, a member of GH31 family, has been shown to be an alpha-galactosidase. Mutations in MYORG may drive disease progression through loss of enzymatic activity. Additionally, a small molecule ligand has been discovered to enhance the activity of mutant MYORG.

PLOS BIOLOGY (2022)

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Article Genetics & Heredity

Mutation Analysis of MYORG in a Chinese Cohort With Primary Familial Brain Calcification

Yi-Heng Zeng et al.

Summary: The study revealed a link between MYORG gene mutations and PFBC in Chinese patients, with affected individuals showing a consistent clinical spectrum including brain calcification and parkinsonism. Novel MYORG variants were identified, expanding the understanding of genetic and phenotypic diversity in PFBC-MYORG.

FRONTIERS IN GENETICS (2021)

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Article Biochemistry & Molecular Biology

MutationTaster2021

Robin Steinhaus et al.

Summary: The updated version of MutationTaster uses a different prediction model to achieve higher accuracy, especially for rare benign variants, and integrates new data sources that were not available in the previous release. Changes include an improved splice site prediction model, providing information on diseases caused by known mutations, user-friendly interface improvements, and accelerated processing of uploaded VCF files.

NUCLEIC ACIDS RESEARCH (2021)

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Review Clinical Neurology

Genotype-Phenotype Relations in Primary Familial Brain Calcification: Systematic MDSGene Review

Alexander Balck et al.

Summary: This systematic review summarizes data on individuals with confirmed genetic forms of primary familial brain calcification, revealing that some carriers of certain gene mutations are clinically unaffected, and different gene variants show varying penetrance. Clinically affected patients often exhibit motor or non-motor symptoms, with parkinsonism and speech disturbance being the most common motor manifestations, and cognitive deficits, headache, and depression being major non-motor symptoms.

MOVEMENT DISORDERS (2021)

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Letter Clinical Neurology