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The Role of FRMD7 in Idiopathic Infantile Nystagmus
Joint Authors
Shackleton, Sue
Thomas, Mervyn G.
Talbot, Chris J.
Gottlob, Irene
Watkins, Rachel J.
Source
Issue
Vol. 2012, Issue 2012 (31 Dec. 2012), pp.1-7, 7 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2011-08-29
Country of Publication
Egypt
No. of Pages
7
Main Subjects
Abstract EN
Idiopathic infantile nystagmus (IIN) is an inherited disorder in which the nystagmus arises independently of any other symptoms, leading to the speculation that the disorder represents a primary defect in the area of the brain responsible for ocular motor control.
The inheritance patterns are heterogeneous, however the most common form is X-linked.
FRMD7 resides at Xq26-27 and approximately 50% of X-linked IIN families map to this region.
Currently 45 mutations within FRMD7 have been associated with IIN, confirming the importance of FRMD7 in the pathogenesis of the disease.
Although mutations in FRMD7 are known to cause IIN, very little is known about the function of the protein.
FRMD7 contains a conserved N-terminal FERM domain suggesting that it may provide a link between the plasma membrane and actin cytoskeleton.
Limited studies together with the knowledge of the function of other FERM domain containing proteins, suggest that FRMD7 may play a role in membrane extension during neuronal development through remodeling of the actin cytoskeleton.
American Psychological Association (APA)
Watkins, Rachel J.& Thomas, Mervyn G.& Talbot, Chris J.& Gottlob, Irene& Shackleton, Sue. 2011. The Role of FRMD7 in Idiopathic Infantile Nystagmus. Journal of Ophthalmology،Vol. 2012, no. 2012, pp.1-7.
https://search.emarefa.net/detail/BIM-473355
Modern Language Association (MLA)
Watkins, Rachel J.…[et al.]. The Role of FRMD7 in Idiopathic Infantile Nystagmus. Journal of Ophthalmology No. 2012 (2012), pp.1-7.
https://search.emarefa.net/detail/BIM-473355
American Medical Association (AMA)
Watkins, Rachel J.& Thomas, Mervyn G.& Talbot, Chris J.& Gottlob, Irene& Shackleton, Sue. The Role of FRMD7 in Idiopathic Infantile Nystagmus. Journal of Ophthalmology. 2011. Vol. 2012, no. 2012, pp.1-7.
https://search.emarefa.net/detail/BIM-473355
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-473355