A novel splice site mutation in ERLIN2 causes hereditary spastic paraplegia in a Saudi family
| Autor: | Batoul Baz, Khushnooda Ramzan, Salma M. Wakil, Saeed Bohlega, Samya Hagos, Zuhair N. Al-Hassnan, Haya Al Dossari |
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| Rok vydání: | 2012 |
| Předmět: |
Male
Weakness Hereditary spastic paraplegia Saudi Arabia Endoplasmic-reticulum-associated protein degradation medicine.disease_cause Consanguinity Gene Order Genetics medicine Humans splice Spasticity Amino Acid Sequence Child Genetics (clinical) Mutation Splice site mutation Base Sequence business.industry Genetic heterogeneity Spastic Paraplegia Hereditary Homozygote Membrane Proteins General Medicine medicine.disease Pedigree RNA Splice Sites medicine.symptom business |
| Zdroj: | European journal of medical genetics. 56(1) |
| ISSN: | 1878-0849 |
| Popis: | Hereditary Spastic Paraplegias (HSP) encompass a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by insidiously progressive weakness and spasticity of the lower extremities. We describe a consanguineous Saudi family segregating a complicated form of HSP in an autosomal recessive pattern. The two affected siblings had early onset, cognitive, speech and motor involvement with spasticity of the lower extremities. Their upper extremities were mildly hypertonic. An intronic splice acceptor site mutation in ERLIN2 was found to be responsible for causing this disorder found in this family. ERLIN2 is a mediator of endoplasmic reticulum degradation pathway (ERAD) which helps to remove the aberrant proteins. Our results, in concurrence with previous studies suggest that alteration in ERLIN2 is one of the causes of complicated HSP, thereby increasing the spectrum of known mutations in SPG18. |
| Databáze: | OpenAIRE |
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