The Role of FRMD7 in Idiopathic Infantile Nystagmus
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 hetero...
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| Format: | Article |
| Language: | English |
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Wiley
2012-01-01
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| Series: | Journal of Ophthalmology |
| Online Access: | http://dx.doi.org/10.1155/2012/460956 |
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| author | Rachel J. Watkins Mervyn G. Thomas Chris J. Talbot Irene Gottlob Sue Shackleton |
| author_facet | Rachel J. Watkins Mervyn G. Thomas Chris J. Talbot Irene Gottlob Sue Shackleton |
| author_sort | Rachel J. Watkins |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-7ef137fc46824fd88e924c868cb9cbdf |
| institution | Kabale University |
| issn | 2090-004X 2090-0058 |
| language | English |
| publishDate | 2012-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Journal of Ophthalmology |
| spelling | doaj-art-7ef137fc46824fd88e924c868cb9cbdf2025-02-03T06:13:17ZengWileyJournal of Ophthalmology2090-004X2090-00582012-01-01201210.1155/2012/460956460956The Role of FRMD7 in Idiopathic Infantile NystagmusRachel J. Watkins0Mervyn G. Thomas1Chris J. Talbot2Irene Gottlob3Sue Shackleton4Department of Biochemistry, Henry Wellcome Building, University of Leicester, Leicester LE1 9HN, UKOphthalmology Group, School of Medicine, University of Leicester, P.O. Box 65, Leicester LE2 7LX, UKDepartment of Genetics, University of Leicester, University Road, Leicester LE1 7RH, UKDepartment of Genetics, University of Leicester, University Road, Leicester LE1 7RH, UKDepartment of Biochemistry, Henry Wellcome Building, University of Leicester, Leicester LE1 9HN, UKIdiopathic 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.http://dx.doi.org/10.1155/2012/460956 |
| spellingShingle | Rachel J. Watkins Mervyn G. Thomas Chris J. Talbot Irene Gottlob Sue Shackleton The Role of FRMD7 in Idiopathic Infantile Nystagmus Journal of Ophthalmology |
| title | The Role of FRMD7 in Idiopathic Infantile Nystagmus |
| title_full | The Role of FRMD7 in Idiopathic Infantile Nystagmus |
| title_fullStr | The Role of FRMD7 in Idiopathic Infantile Nystagmus |
| title_full_unstemmed | The Role of FRMD7 in Idiopathic Infantile Nystagmus |
| title_short | The Role of FRMD7 in Idiopathic Infantile Nystagmus |
| title_sort | role of frmd7 in idiopathic infantile nystagmus |
| url | http://dx.doi.org/10.1155/2012/460956 |
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