| A novel frame-shift mutation in FRMD7 causes X-linked idiopathic congenital nystagmus in a Chinese family. | |
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MedLine Citation:
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PMID: 22065930 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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PURPOSE: To screen mutations in the FERM domain-containing 7 (FRMD7) gene in a Chinese family with X-linked idiopathic congenital nystagmus (ICN). METHODS: It has been reported that FRMD7 mutations account for approximately 47% of X-linked nystagmus in Chinese patients. We collected 5 ml of blood samples from members of a family with X-linked ICN and 100 normal controls. Mutations in FRMD7 were determined by sequencing PCR products. RESULTS: We identified a previously unreported 4 bp deletion in FRMD7 (c.1486-1489 del TTTT) in a Chinese family. The mutation co-segregated with the disease phenotype in patients and female carriers, while it was not detected in other relatives or in the 100 normal controls. CONCLUSIONS: Our results expand the spectrum of FRMD7 mutations causing ICN, and further confirm the role of FRMD7 in the pathogenesis of ICN. Direct sequencing of FRMD7 could be used as a diagnostic testing of idiopathic congenital nystagmus. |
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Authors:
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Wei Du; Juan Bu; Jiamei Dong; Yanlei Jia; Jing Li; Chen Liang; Shancheng Si; Lejin Wang |
Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't Date: 2011-10-22 |
Journal Detail:
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Title: Molecular vision Volume: 17 ISSN: 1090-0535 ISO Abbreviation: Mol. Vis. Publication Date: 2011 |
Date Detail:
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Created Date: 2011-11-08 Completed Date: 2012-02-29 Revised Date: 2013-05-23 |
Medline Journal Info:
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Nlm Unique ID: 9605351 Medline TA: Mol Vis Country: United States |
Other Details:
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Languages: eng Pagination: 2765-8 Citation Subset: IM |
Affiliation:
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Department of Ophthalmology, Peking University 3rd Hospital, Beijing, PR China. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Aged Asian Continental Ancestry Group / genetics* Base Sequence Case-Control Studies Child, Preschool Cytoskeletal Proteins / genetics* DNA Mutational Analysis Female Frameshift Mutation* Genes, X-Linked* Genetic Diseases, X-Linked / genetics* Genetic Testing Heterozygote Humans Male Membrane Proteins / genetics* Molecular Sequence Data Nystagmus, Congenital / genetics* Pedigree Phenotype Sequence Deletion Sex Factors |
| Chemical | |
Reg. No./Substance:
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0/Cytoskeletal Proteins; 0/FRMD7 protein, human; 0/Membrane Proteins |
| Comments/Corrections | |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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