Dystonia - complex
Gene: GLB1
Established gene-disease association with dystonia a presenting feature in chronic/adult onset GM1-gangliosidosis.
PMID: 24156116 - Lysosomal storage disorder characterised by neurodegeneration and mild skeletal changes that is represented by a spectrum - severe, intermediate and mild.
Dystonia typically presents in late childhood to third decade in individuals with a milder form of gangliosidosis.
PMID: 35937492 - mild kyphoscoliosis and visual impairment. She developed generalised dystonia along with other neurological features.
Genetic testing identified compound het mutation (Thr82Met; His112Pro) - both present in gnomAD v4.1 at a rare enough FAF for AR condition.
PMID: 34514040 - Individual presenting with dystonia, cognitive impairment and other neurological features. Older brother presented with dystonia as well but had a milder phenotype. Both siblings also present with concordant MRI findings suggestive of gangliosidosis.
Both siblings had homozygous p.Phe107Leu mutation.
PMID: 1353343 - Multiple unrelated Japanese individuals with GM1 gangliosidosis. Affected individuals presented with gait and speech disturbances along with muscle hypotonia and dystonic posturing.
Ile51Thr missense variant was identified homozygous state in all but one patient.
One patient was compound heterozygous (Ile51Thr;Arg457Gln)Created: 9 Dec 2024, 9:34 p.m. | Last Modified: 9 Dec 2024, 9:34 p.m.
Panel Version: 0.254
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
GM1 gangliosidosis type 3 MONDO:0009262
Publications
Gene: glb1 has been classified as Green List (High Evidence).
Phenotypes for gene: GLB1 were changed from Infantile GM1 gangliosidosis to GM1 gangliosidosis type 3 MONDO:0009262
Publications for gene: GLB1 were set to
gene: GLB1 was added gene: GLB1 was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: GLB1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GLB1 were set to Infantile GM1 gangliosidosis