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Mutational frequencies in usherin(USH2A gene) in 26 Colombian individuals with Usher syndrome type II


, : Mutational frequencies in usherin(USH2A gene) in 26 Colombian individuals with Usher syndrome type II. Biomedica 31(1): 82-90

Usher syndrome is a disorder characterized by progressive retinitis pigmentosa, prelingual sensory hearing loss and vestibular dysfunction. It is the most frequent cause of deaf-blindness in humans. Three clinical types and twelve genetic subtypes have been characterized. Type II is the most common, and among these cases, nearly 80% have mutations in the USH2A gene. The aim of the study was to establish the mutational frequencies for the short isoform of USH2A gene in Usher syndrome type II. Twenty-six Colombian individuals with Usher syndrome type II were included. SSCP analysis for 20 exons of the short isoform was performed and abnormal patterns were sequenced. Sequencing of exon 13 of the USH2A gene was performed for all the individuals because the most frequent mutation is located in this exon. The most frequent mutation was c.2299delG, identified in the 27% (n=8) of the sample. The second mutation, p.R334W, showed a frequency of 15%. A new variant identified in the 5’UTR region, g.129G>T, was present in 1 individual (4%). Four polymorphisms were identified; one of them is a new deletion in exon 20, first reported in this study. Mutations in the usherin short isoform were identified in 38% of a sample of 26 USH2 cases. Molecular diagnosis was established in 7 of the 26.

US$19.90

PMID: 22159486

DOI: 10.1590/S0120-41572011000100010


Other references

Livingstone, Daniel, 1950: A new record for the mastodon Mastodon americanus Kerr, from Nova Scotia. A 3d lower molar from right side was found in glacial till thought to have come from a gravel pit in Hants County. A femur and another tooth had previously been recorded from Cape Breton, N. S.

Wang, X.; Imura, T.; Sofroniew, M.V.; Fushiki, S., 2012: Loss of adenomatous polyposis coli in Bergmann glia disrupts their unique architecture and leads to cell nonautonomous neurodegeneration of cerebellar Purkinje neurons. The tumor suppressor adenomatous polyposis coli (APC) is a multifunctional protein that inhibits the Wnt/beta-catenin signaling pathway and regulates the microtubule and actin cytoskeletons. Using conditional knockout (CKO) mice in which the APC g...

Huang, Chun-Yan., 1996: Observations on bionomics of Chaetexorista eutachinoides Baranov. Entomological Knowledge. January; 331: 33-35

Löhnert, M.; Doniec, J.M.; Kovács, G.; Schröder, J.; Dohrmann, P., 1998: New method of radiotherapy for anal cancer with three-dimensional tumor reconstruction based on endoanal ultrasound and ultrasound-guided afterloading therapy. Standard treatment of anal cancer is a protocol of combined chemotherapy and percutaneous radiotherapy. We developed a new endosonography-based radiation target simulation method, because endoanal sonography gives the best opportunity to stage the...

Abell, T.L.; Van Cutsem, E.; Abrahamsson, H.; Huizinga, J.D.; Konturek, J.W.; Galmiche, J.Paul.; VoelIer, G.; Filez, L.; Everts, B.; Waterfall, W.E.; Domschke, W.; Bruley des Varannes, S.; Familoni, B.O.; Bourgeois, I.M.; Janssens, J.; Tougas, G., 2003: Gastric electrical stimulation in intractable symptomatic gastroparesis. The treatment of gastroparesis remains unsatisfactory despite prokinetic and anti-emetic drugs. Gastric electrical stimulation has been proposed as a therapeutic option. We have assessed the effect of gastric electrical stimulation on symptoms, me...

Holmstedt B., 1977: Introduction of gas chromatography mass spectrometry in drug research. INT UNION PHARMACOL PROCEEDINGS OF THE INTERNATIONAL CONGRESS OF PHARMACOLOGY, 6TH ABSTRACT HELSINKI, FINLAND, 1975 632p ILLUS PERGAMON PRESS: OXFORD, ENGL ; NEW YORK, N Y , USA ISBN 0-08-021308-1 412

Shilov, E.M.; Gordovskaia, N.B.; Ivanov, A.A.; Leskov, V.P.; Sura, V.V., 1987: Cellular aspects of immuno-inflammatory involvement of the kidneys. Terapevticheskii Arkhiv 59(11): 150-154

Robertson, J.M.; Vinten-Johansen, J.; Buckberg, G.D.; Rosenkranz, E.R.; Maloney, J.V.Jr, 1984: Safety of prolonged aortic clamping with blood cardioplegia 1. glutamate enrichment in normal hearts. This study compares the protection provided by prolonged (4 h) aortic clamping with glutamate-enriched K blood cardioplegia (n = 8) to (1) prolonged (4 h) aortic clamping with multidose K blood cardioplegia without glutamate (n = 4), (2) 4 h of co...

Zhang Guangxue; Yang Muzhuang, 1997: Study of overthrust nappe structure and its geodynamic mechanism along the southeastern margin of Nansha Trough. On the basis of interpretation of comprehensive geophysical data and foreign data analysis, there existed a lot of overburden detachment shear thrust faults along the southeastern margin of Nansha trough, which composed imbricated overthrust nappe...

Chia D.; Terasaki P.I.; Wiseman C.; Rosenbloom B.; Ouwendijk R.; Tokita K., 1986: The use of multiple tumor markers in monitoring cancer patients. Proceedings of the American Association for Cancer Research Annual Meeting 27: 160