2014
DOI: 10.1016/j.gene.2014.01.040
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WFS1 and non-syndromic low-frequency sensorineural hearing loss: A novel mutation in a Portuguese case

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Cited by 13 publications
(5 citation statements)
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“…This protein is essential for maintaining correct levels of Ca 2+ and other charged particles necessary for hearing, and its lack of function induces apoptotic input signaling in the ER [ 16 , 17 ]. Although it remains unknown whether wolframin is expressed in the human cochlea, mutations in the WFS1 gene, such as c.511G > A (p.D171N), c.2005 T > C (p.Y669H) and c.2590G > A (p.E864K), have been identified as frequent causes of autosomal dominant low-frequency hearing loss in different ethnicities [ 18 - 20 ]. The heterozygous 3-bp deletion (c.2036_2038delAGG) identified in the present study is expected to cause the loss of the E680 codon, which might affect the three-dimensional shape or properties of the wolframin protein and consequently interfere the normal function of the wolframin tetramer.…”
Section: Discussionmentioning
confidence: 99%
“…This protein is essential for maintaining correct levels of Ca 2+ and other charged particles necessary for hearing, and its lack of function induces apoptotic input signaling in the ER [ 16 , 17 ]. Although it remains unknown whether wolframin is expressed in the human cochlea, mutations in the WFS1 gene, such as c.511G > A (p.D171N), c.2005 T > C (p.Y669H) and c.2590G > A (p.E864K), have been identified as frequent causes of autosomal dominant low-frequency hearing loss in different ethnicities [ 18 - 20 ]. The heterozygous 3-bp deletion (c.2036_2038delAGG) identified in the present study is expected to cause the loss of the E680 codon, which might affect the three-dimensional shape or properties of the wolframin protein and consequently interfere the normal function of the wolframin tetramer.…”
Section: Discussionmentioning
confidence: 99%
“…The WFS1 (c.449C>T; p.A150 V) identified in the present study is located in the extracellular N-terminus domain of the wolframin protein. Three other mutations in the N-terminal cytoplasmic domain of the protein, p.R161Q, p.D171N and p.K193Q, have been associated with LFSNHL [34] , [37] [45] . Other clinical features including optic atrophy have not been reported as concomitant features in families with LFSNHL.…”
Section: Discussionmentioning
confidence: 99%
“…Так було виявлено об'єктивну хара-ктеристику вродженого дефекту слуху, виклика-ного мутованим геном WFS1 (wolframin ER transmembrane glycoprotein), білок якого в невеликій кількості утворюється тільки в завитці внутріш-нього вуха. Як встановила міжнародна група до-слідників методом суб'єктивної аудіометрії [10], цей ген відповідає за незвичний тип глухоти -зменшену здатність чути низькочастотні звуки. Припускається, що в виникненні і розвитку слуху задіяно біля 50 генів, лише 20 із яких ідентифіко-вано [11].…”
Section: акустичні прилади та системиunclassified