A novel SLC26A4 (PDS) deafness mutation retained in the endoplasmic reticulum

Archives of Otolaryngology--head & Neck Surgery
Zippora BrownsteinKaren B Avraham

Abstract

To identify mutations in the SLC26A4 gene in individuals with nonsyndromic hearing loss and enlarged vestibular aqueduct, to design a predicted model of the pendrin protein, and to characterize novel mutations by means of localization in mammalian cells and effect of the mutation on the predicted model. Validation of the mutation by its exclusion in more than 300 individuals with normal hearing. A laboratory of genetics of hearing loss research, clinical genetics laboratories, an otolaryngology department at Tel Aviv University, and medical centers in Israel. A patient with nonsyndromic hearing loss and enlarged vestibular aqueduct, 203 deaf probands, and 310 controls with normal hearing. Sequencing the SLC26A4 gene in the patient with nonsyndromic hearing loss and enlarged vestibular aqueduct. Transfection of yellow fluorescent protein (YFP) constructs into mammalian COS7 cells. Designing a computational model of the human SLC26A4 protein. Detection of a novel c.1458_1459insT SLC26A4 mutation. A computational model of the human pendrin protein suggests that the novel c.1458_1459insT mutation leads to a prematurely truncated protein, p.Ile487TyrfsX39. Mammalian COS7 cells transfected with the YFP-1458_1459insT construct showed ...Continue Reading

Citations

Apr 25, 2014·Mammalian Genome : Official Journal of the International Mammalian Genome Society·Amiel A DrorKaren B Avraham
Aug 22, 2009·Annual Review of Genetics·Amiel A Dror, Karen B Avraham
Oct 8, 2015·Otolaryngologic Clinics of North America·Tal KofflerKaren B Avraham
Jul 21, 2009·International Journal of Pediatric Otorhinolaryngology·Elona CamaSalvatore Melchionda
Oct 20, 2010·Neuron·Amiel A Dror, Karen B Avraham
Nov 26, 2011·Cellular Physiology and Biochemistry : International Journal of Experimental Cellular Physiology, Biochemistry, and Pharmacology·Silvia DossenaMarkus Paulmichl
Nov 26, 2011·Cellular Physiology and Biochemistry : International Journal of Experimental Cellular Physiology, Biochemistry, and Pharmacology·Silvia DossenaMarkus Paulmichl
Nov 26, 2011·Cellular Physiology and Biochemistry : International Journal of Experimental Cellular Physiology, Biochemistry, and Pharmacology·Amiel A DrorKaren B Avraham
Apr 25, 2009·Pediatric Research·Zippora Brownstein, Karen B Avraham

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