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A novel splice site mutation in ERLIN2 causes hereditary spastic paraplegia in a Saudi family

Wakil, Salma M ; Bohlega, Saeed ; Hagos, Samya ; Baz, Batoul ; Al Dossari, Haya ; Ramzan, Khushnooda ; Al-Hassnan, Zuhair N

European Journal of Medical Genetics, January 2013, Vol.56(1), pp.43-45 [Periódico revisado por pares]

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  • Título:
    A novel splice site mutation in ERLIN2 causes hereditary spastic paraplegia in a Saudi family
  • Autor: Wakil, Salma M ; Bohlega, Saeed ; Hagos, Samya ; Baz, Batoul ; Al Dossari, Haya ; Ramzan, Khushnooda ; Al-Hassnan, Zuhair N
  • Assuntos: Hereditary Spastic Paraplegias ; Spg18 ; Erlin2 ; Medicine
  • É parte de: European Journal of Medical Genetics, January 2013, Vol.56(1), pp.43-45
  • Descrição: 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 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 is one of the causes of complicated HSP, thereby increasing the spectrum of known mutations in SPG18. ► This...
  • Idioma: Inglês

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