Novel V97G ASAH1 mutation found in Farber disease patients: unique appearance of the disease with an intermediate severity, and marked early involvement of central and peripheral nervous system.
PMID 21893389 | DOI 10.1016/j.braindev.2011.07.003 · Brain & development · 2012
Farber disease is a rare inherited lysosomal storage disorder caused by ceramidase deficiency that leads to accumulation of ceramide in various tissues. Mutations within ASAH1 encoding for acid ceramidase are responsible for the disease. Here we report two siblings with Farber disease who carry a novel V97G with the parents and a sister being asymptomatic carriers. The mutation site was found to be highly conserved among different species using ClustalW2 alignment. Functional prediction tools indicated the mutation to be pathogenic. Electron microscopy based ultrastructural studies using skin biopsy showed inclusion of enlarged lysosomes and presence of the zebra bodies. The T1 weighted magnetic resonance images of the brain indicated diffuse loss of the deep white matter volume predominantly along the occipital horns of the lateral ventricle with subsequent facet dilatation of the supratentorial and infratentorial ventricular system. This is the first report of a detailed clinical and molecular analysis of cases with Farber disease from Saudi Arabia.
Validated evidence
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | ASAH1 | “Novel V97G ASAH1 mutation found in Farber disease patients: unique appearance of the disease with an intermediate severity, and marked early involvement of central and peripheral nervous system.” | 0.98 | hgnc_dict_v1 |
| phenotype | lysosomal storage disease | “Farber disease is a rare inherited lysosomal storage disorder caused by ceramidase deficiency that leads to accumulation of ceramide in various tissues.” | 0.93 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia | “This is the first report of a detailed clinical and molecular analysis of cases with Farber disease from Saudi Arabia.” | 0.95 | saudi_context_rules_v1 |
| variant | V97G | “Novel V97G ASAH1 mutation found in Farber disease patients: unique appearance of the disease with an intermediate severity, and marked early involvement of central and peripheral nervous system.” | 0.82 | literature_variant_regex_v2 |