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Four novel and two recurrent NHLRC1 (EPM2B) and EPM2A gene mutations leading to Lafora disease in six Turkish families |
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| Authors: | Salar Seda Yeni Naz Gündüz Ayşegül Güler Ayşe Gökçay Ahmet Velioğlu Sibel Gündoğdu Aslı Hande Çağlayan S |
| Institution: | 1. Department of Pediatrics, Division of Medical Genetics, University of Utah, 50 North Mario Capecchi Drive, 2C412 SOM, Salt Lake City, UT 84132, USA;2. Department of Pathology, University of Utah, USA;3. ARUP Laboratories, University of Utah, 500 Chipeta Way, Salt Lake City, UT 84108, USA;4. Department of Medical Imaging, Primary Children''s Medical Center, University of Utah School of Medicine, 100 N Mario Capecchi Drive, Salt Lake City, UT 84113, USA |
| Abstract: | Lafora disease (LD) is a type of autosomal recessive, progressive myoclonus epilepsy resulting mostly from mutations in the EPM2A and NHLRC1 genes. Mutational analysis in both genes was initiated with the aim of establishing LD DNA diagnosis in Turkey. Four novel NHLRC1 (p.G131X, p.P69S and p.D82H) and EPM2A (p.V7A) and two recurrent NHLRC1 (p.D146N) and EPM2A (p.R241X) mutations were identified in six families. The delineation of causative mutations in patients provided early disease diagnosis for other family members and contributed to the knowledge of LD pathogenesis. |
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