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1 records shown · first 60Atypical juvenile presentation of GM2 gangliosidosis AB in a patient compound-heterozygote for c.259G > T and c.164C > T mutations in the GM2A gene.
PMID 28417072 | PMCID PMC5388932 | DOI 10.1016/j.ymgmr.2017.01.017 · Molecular genetics and metabolism reports · 2017 · 7 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | p.P55L | “Brain MRI detected a rapid onset of diffuse atrophy, whereas whole exome sequencing showed that the patient is a compound heterozygote for two mutations in GM2A: a novel nonsense mutation, c.259G > T (p.E87X) and a missense mutation c.164C > T (p.P55L) that was recently identified in homozygosity in patients of a Saudi family with a progressive chorea-dementia syndrome.” | 0.95 | hgvs_regex_v1 |
| gene | GM2A | “Atypical juvenile presentation of GM2 gangliosidosis AB in a patient compound-heterozygote for c.259G > T and c.164C > T mutations in the GM2A gene.” | 0.98 | hgnc_dict_v1 |
| phenotype | intellectual disability | “At the age of 3 years he presented with global developmental delay, progressive epilepsy, intellectual disability, axial hypertonia, spasticity, seizures and ataxia, but without the macular cherry-red spots typical for GM2 gangliosidosis.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | developmental delay | “At the age of 3 years he presented with global developmental delay, progressive epilepsy, intellectual disability, axial hypertonia, spasticity, seizures and ataxia, but without the macular cherry-red spots typical for GM2 gangliosidosis.” | 0.98 | phenotype_alias_lexicon_v2 |