Open AccessSpectrum and Frequency of Mutations in IMPDH1 Associated with Autosomal Dominant Retinitis Pigmentosa and Leber Congenital Amaurosis
Author(s) -
Sara J. Bowne,
Lori S. Sullivan,
Sarah Mortimer,
Lizbeth Hedstrom,
Jiankun Zhu,
Catherine J. Spellicy,
Anisa Gire,
Dianna K. Hughbanks-Wheaton,
David G. Birch,
Richard A. Lewis,
John R. Heckenlively,
Stephen P. Daiger
Publication year - 2006
Publication title -
investigative ophthalmology and visual science
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.935
H-Index - 218
eISSN - 1552-5783
pISSN - 0146-0404
DOI - 10.1167/iovs.05-0868
Subject(s) - biology , retinitis pigmentosa , mutant , genetics , point mutation , visual phototransduction , retinal degeneration , mutation , microbiology and biotechnology , biochemistry , gene , retinal
The purpose of this study was to determine the frequency and spectrum of inosine monophosphate dehydrogenase type I (IMPDH1) mutations associated with autosomal dominant retinitis pigmentosa (RP), to determine whether mutations in IMPDH1 cause other forms of inherited retinal degeneration, and to analyze IMPDH1 mutations for alterations in enzyme activity and nucleic acid binding.