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- Title
Farber lipogranulomatosis: clinical and molecular genetic analysis reveals a novel mutation in an Indian family.
- Authors
Devi, Akela Radha Rama; Gopikrishna, Munimanda; Ratheesh, Raman; Savithri, Gorinabele; Swarnalata, Gowrishankar; Bashyam, Murali
- Abstract
Farber disease is a rare lysosomal storage disorder caused by a deficiency of the acid ceramidase enzyme, leading to the accumulation of ceramide in various tissues. It usually manifests within a few months after birth with a unique triad of symptoms, including painful and progressive deformed joints, progressive hoarseness and subcutaneous nodules. The disease is inherited as an autosomal recessive trait, and mutations in the N-acylsphingosine amidohydrolase (ASAH1) gene, which codes for the acid ceramidase enzyme, have been shown to cause the disease. In the current study, we report the identification of a novel disease-causing mutation in the ASAH1 gene that results in Farber disease in an Indian family. The mutation was identified in the eighth exon and is a missense mutation resulting in replacement of Valine by Leucine at codon 182. Two affected siblings harboured the identical mutation. The possible mechanism(s) of disease caused by this mutation are discussed.
- Publication
Journal of human genetics, 2006, Vol 51, Issue 9, p811
- ISSN
1434-5161
- Publication type
Journal Article
- DOI
10.1007/s10038-006-0019-z