A chromosomal inversion has been identified in a region of chromosome 18 that has recently been shown to contain a very significant locus for developmental dyslexia. It is hypothesized that one of the breakpoints of this chromosomal inversion disrupts a gene influencing language ability. The same gene leading to the defect in this family could underlie the mutational basis of developmental dyslexia. The following aims will be accomplished: 1) Map the inversion breakpoints, 2) Identify the candidate gene(s), and 3) Screen for mutations in this gene in an independent sample. Fluorescence in situ hybridization (FISH) and Southern blotting analysis will be used to locate the breakpoints. The gene at or near this disruption will then be screened for mutations, by sequencing analysis, in samples showing linkage to this region. Mapping genes by finding the breakpoints of chromosomal anomalies gives one a considerable advantage because often the gene at the site of disruption is the disease susceptibility gene. By identifying a disrupted gene in our samples with inherited dyslexia, and screening for a mutation in linked samples, this project aims to circumvent years of work and identify a gene causing susceptibility to developmental language disorders. This information will be invaluable in aiding to elucidate the mechanisms underlying neurodevelopmental disorders involving language.

Agency
National Institute of Health (NIH)
Institute
National Institute of Neurological Disorders and Stroke (NINDS)
Type
Predoctoral Individual National Research Service Award (F31)
Project #
5F31NS046871-02
Application #
7002664
Study Section
Special Emphasis Panel (ZRG1-F01 (20))
Program Officer
Babcock, Debra J
Project Start
2004-09-15
Project End
2007-09-14
Budget Start
2005-09-15
Budget End
2006-09-14
Support Year
2
Fiscal Year
2005
Total Cost
$27,451
Indirect Cost
Name
University of California Los Angeles
Department
Neurology
Type
Schools of Medicine
DUNS #
092530369
City
Los Angeles
State
CA
Country
United States
Zip Code
90095