Disease relevance of FSCN2

• PURPOSE: To characterize the clinical features of 14 Japanese patients with autosomal dominant retinitis pigmentosa (ADRP) who were found to have a mutation in the FSCN2 gene [1].
• Autosomal dominant macular degeneration associated with 208delG mutation in the FSCN2 gene [2].
• CONCLUSIONS: The 208delG mutation in FSCN2 is not associated with hereditary retinal degeneration in the Chinese individuals examined, which contradicts the original report about mutation in FSCN2 as a cause of ADRP and ADMD [3].
• 99mTc-MIBI (RP-30) to define the extent of myocardial ischemia and evaluate ventricular function [4].

High impact information on FSCN2

• PURPOSE: The 208delG (c.72delG, p.Thr25GlnfsX120) mutation in the FSCN2 gene was reported to cause autosomal dominant retinitis pigmentosa (ADRP) and autosomal dominant macular degeneration (ADMD) [3].
• The 208delG Mutation in FSCN2 Does Not Associate with Retinal Degeneration in Chinese Individuals [3].
• CONCLUSIONS: These results indicate that haploinsufficiency of the FSCN2 gene may hamper maintenance and/or elongation of the OS disks and result in photoreceptor degeneration, as in human autosomal dominant retinitis pigmentosa [5].
• PURPOSE: To investigate the morphology and function of photoreceptors in mice with mutation of the FSCN2 gene [5].
• The gene encoding retinal fascin was localized to human chromosome 17, region q24 -25 [6].

Biological context of FSCN2

• Promoter analysis reveals a consensus retinoic acid response element and several potential binding sites for transcription factors Crx and Nrl, which correlates with the retina-specific expression of FSCN2 mRNA [7].
• The likely function of retinal fascin, in light of known fascin roles in other cell types, is to assemble actin microfilaments in support of photoreceptor disk morphogenesis [7].
• We suggest that mutations in the FSCN2 gene can lead to a spectrum of phenotypes [2].

Other interactions of FSCN2

• Fluorescence in situ hybridization analysis and genomic clone sequencing indicate that the FSCN2 gene lies within 200 kb of the actin gene ACTG1 at 17q25 [7].
• CONCLUSIONS: The 208delG mutation in the FSCN2 gene produces not only autosomal dominant retinitis pigmentosa but also ADMD in the Japanese population [2].

Analytical, diagnostic and therapeutic context of FSCN2

• RESULTS: The actin-binding and actin-bundling activities of retinal fascin were demonstrated by high- and low-speed centrifugation assays [6].
• Western blot analysis and immunohistochemistry were performed with a polyclonal antibody raised against bovine retinal fascin [6].
• Formation of filamentous (F)-actin bundles by retinal fascin in vitro was also morphologically confirmed by fluorescence microscopy and electron microscopy [6].

References