Title |
Three novel mutations in KIF21A highlight the importance of the third coiled-coil stalk domain in the etiology of CFEOM1
|
---|---|
Published in |
BMC Genomic Data, May 2007
|
DOI | 10.1186/1471-2156-8-26 |
Pubmed ID | |
Authors |
Wai-Man Chan, Caroline Andrews, Laryssa Dragan, Douglas Fredrick, Linlea Armstrong, Christopher Lyons, Michael T Geraghty, David G Hunter, Ahmad Yazdani, Elias I Traboulsi, Jan WR Pott, Nicholas J Gutowski, Sian Ellard, Elizabeth Young, Frank Hanisch, Feray Koc, Bruce Schnall, Elizabeth C Engle |
Abstract |
Congenital fibrosis of the extraocular muscles types 1 and 3 (CFEOM1/CFEOM3) are autosomal dominant strabismus disorders that appear to result from maldevelopment of ocular nuclei and nerves. We previously reported that most individuals with CFEOM1 and rare individuals with CFEOM3 harbor heterozygous mutations in KIF21A. KIF21A encodes a kinesin motor involved in anterograde axonal transport, and the familial and de novo mutations reported to date predictably alter one of only a few KIF21A amino acids--three within the third coiled-coil region of the stalk and one in the distal motor domain, suggesting they result in altered KIF21A function. To further define the spectrum of KIF21A mutations in CFEOM we have now identified all CFEOM probands newly enrolled in our study and determined if they harbor mutations in KIF21A. |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
United States | 1 | 3% |
Norway | 1 | 3% |
Unknown | 28 | 93% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Researcher | 7 | 23% |
Student > Ph. D. Student | 6 | 20% |
Other | 5 | 17% |
Student > Master | 5 | 17% |
Lecturer | 1 | 3% |
Other | 3 | 10% |
Unknown | 3 | 10% |
Readers by discipline | Count | As % |
---|---|---|
Agricultural and Biological Sciences | 16 | 53% |
Medicine and Dentistry | 5 | 17% |
Biochemistry, Genetics and Molecular Biology | 4 | 13% |
Physics and Astronomy | 1 | 3% |
Neuroscience | 1 | 3% |
Other | 0 | 0% |
Unknown | 3 | 10% |