Allelic variation of the FRMD7 gene in congenital idiopathic nystagmus
Self, James E., Shawkat, Fatima, Malpas, Crispin T., Thomas, N. Simon, Harris, Christopher M., Hodgkins, Peter R., Chen, Xiaoli, Trump, Dorothy and Lotery, Andrew J. (2007) Allelic variation of the FRMD7 gene in congenital idiopathic nystagmus. Archives of Ophthalmology, 125, (9), 1255-1263.
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Official URL: http://archopht.ama-assn.org/cgi/content/abstract/...
Description/Abstract
OBJECTIVES: To perform a genotype-phenotype correlation study in an X-linked congenital idiopathic nystagmus pedigree (pedigree 1) and to assess the allelic variance of the FRMD7 gene in congenital idiopathic nystagmus. METHODS: Subjects from pedigree 1 underwent detailed clinical examination including nystagmology. Screening of FRMD7 was undertaken in pedigree 1 and in 37 other congenital idiopathic nystagmus probands and controls. Direct sequencing confirmed sequence changes. X-inactivation studies were performed in pedigree 1. RESULTS: The nystagmus phenotype was extremely variable in pedigree 1. We identified 2 FRMD7 mutations. However, 80% of X-linked families and 96% of simplex cases showed no mutations. X-inactivation studies demonstrated no clear causal link between skewing and variable penetrance. CONCLUSIONS: We confirm profound phenotypic variation in X-linked congenital idiopathic nystagmus pedigrees. We demonstrate that other congenital nystagmus genes exist besides FRMD7. We show that the role of X inactivation in variable penetrance is unclear in congenital idiopathic nystagmus. Clinical Relevance We demonstrate that phenotypic variation of nystagmus occurs in families with FRMD7 mutations. While FRMD7 mutations may be found in some cases of X-linked congenital idiopathic nystagmus, the diagnostic yield is low. X-inactivation assays are unhelpful as a test for carrier status for this disease.
| Item Type: | Article |
|---|---|
| ISSN: | 0003-9950 (print) |
| Uncontrolled Keywords: | cytoskeletal proteins, sequence analysis, genotype, proteins, genes, methods, dna, polymorphism, research, role, mutation, protein, congenital, linkage (genetics), phenotype, membrane proteins, congenital, alleles, x-linked, x chromosome inactivation, genetics, x-linked, family, research support, human, single-stranded conformational, eye movements, pedigree, variation (genetics), genetic diseases, disease, female, genes, nystagmus, humans, male, penetrance, electronystagmography, england |
| Related URLs: | http://archopht.ama-assn.org/c...125/9/1255 |
| Subjects: | R Medicine > RE Ophthalmology R Medicine > RB Pathology Q Science > QH Natural history > QH426 Genetics |
| Divisions: | University Structure - Pre August 2011 > School of Medicine > Clinical Neurosciences University Structure - Pre August 2011 > School of Medicine > Medical Education University Structure - Pre August 2011 > School of Medicine > Human Genetics |
| ePrint ID: | 60218 |
| URI: | http://eprints.soton.ac.uk/id/eprint/60218 |
| Deposited On: | 02 Sep 2008 |
| Last Modified: | 01 Jun 2011 10:39 |
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