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Molecular Genetic Studies in Indian Patients With Megalencephalic Leukoencephalopathy
- Source :
-
Pediatric Neurology . Jun2011, Vol. 44 Issue 6, p450-458. 9p. - Publication Year :
- 2011
-
Abstract
- Mutations in the MLC1 gene cause megalencephalic leukoencephalopathy with subcortical cysts. We sought to identify mutations in the MLC1 gene, to evaluate the genotype-phenotype correlation, and to develop a strategy for diagnosing Indian patients with megalencephalic leukoencephalopathy. Forty patients were enrolled. We developed a rapid restriction fragment length polymorphism method to screen a common mutation, c.135_136insC. Rare and novel mutations were screened by conformation-sensitive gel electrophoresis, followed by sequencing. Three previously reported and two novel mutations were identified in 37 patients. The presence of the c.135_136insC mutation in 29 patients of the Agarwal community suggests a founder effect. The mutation c.959C>A was evident in four patients, and appears to be the second commonest mutation. Genotype could not predict phenotype. We recommend screening for the commonest mutation (c.135_136insC), followed by the next commonest mutation (c.959C>A), and then other rare mutations, using conformation-sensitive gel electrophoresis analysis or direct sequencing. [ABSTRACT FROM AUTHOR]
Details
- Language :
- English
- ISSN :
- 08878994
- Volume :
- 44
- Issue :
- 6
- Database :
- Academic Search Index
- Journal :
- Pediatric Neurology
- Publication Type :
- Academic Journal
- Accession number :
- 60520261
- Full Text :
- https://doi.org/10.1016/j.pediatrneurol.2011.01.003