Journal of Genetic Syndromes & Gene Therapy
Open Access

Dorota Hoffman-Zacharska

Publications

• Research Article
  Familial 15q11.2 Micro deletions are not Fully Penetrant in Two Cases with Hereditary Spastic Paraplegia and Dysmorphic Features
  Author(s): Ewelina Elert-Dobkowska, Iwona Stepniak, Marta Rajkiewicz, Wioletta Krysa, Maria Rakowicz, Dorota Hoffman-Zacharska, Wanda Lipczynska-Lojkowska, Jacek Zaremba and Anna Sulek Ewelina Elert-Dobkowska, Iwona Stepniak, Marta Rajkiewicz, Wioletta Krysa, Maria Rakowicz, Dorota Hoffman-Zacharska, Wanda Lipczynska-Lojkowska, Jacek Zaremba and Anna Sulek
  
  Hereditary Spastic Paraplegias (HSP) is heterogenic neurodegenerative disorders with progressive spasticity of the lower limbs as a prominent feature. Spastic paraplegia type 6 (SPG6) is an autosomal dominant form of the disorder caused by point mutations in the NIPA1 gene on chromosome 15q11.2. The microdeletions within the region 15q11.2 and spanning the four genes TUBGCP5, CYFIP1, NIPA2, and NIPA1 were previously reported in several different syndromes, including mental retardation, and/or developmental delay with hypotonia. Furthermore, these genes were associated with several congenital abnormalities, including autism, developmental delay, motor, and language disturbances, behavioural problems, and Idiopathic General Epilepsies (IGE), suggesting the existence of a new microdeletion syndrome. Our index cases, in whom the microdeletion 15q11.2 was detected, suffer from spastic paraple.. View More»
  DOI: 10.4172/2157-7412.1000247

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