Identification of two novel missense WFS1 mutations, H696Y and R703H, in patients with non-syndromic low-frequency sensorineural hearing loss

Sun, Yi; Cheng, Jing; Lu, Yanping; Li, Jianzhong; Lu, Yu; Jin, Zhanguo; Dai, Pu; Wang, Rongguang; Yuan, Huijun

doi:10.1016/j.jcg.2011.01.001

Cited by 25 publications

(17 citation statements)

References 12 publications

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“…DFNA6/14/38 low-frequency sensorineural hearing loss (LFSNHL) is characterized by autosomal dominant transmission, but some recessive or sporadic cases have also been described (78)(79)(80). Most mutations are located in exon 8 and are small noninactivating (missense) mutations, whereas most of the pathogenic mutations in WS1 are inactivating mutations (81).…”

Section: Dfna6/14/38 Nonsyndromic Low-frequency Sensorineural Hearingmentioning

confidence: 99%

Genetic and clinical aspects of Wolfram syndrome 1, a severe neurodegenerative disease

et al. 2018

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Wolfram syndrome 1 (WS1) is a rare autosomal recessive neurodegenerative disease characterized by diabetes insipidus, diabetes mellitus, optic atrophy, deafness, and other abnormalities. WS1 usually results in death before the age of 50 years. The pathogenesis of WS1 is ascribed to mutations of human WFS1 gene on chromosome 4p encoding a transmembrane protein called wolframin which has physiological functions in membrane trafficking, secretion, processing, and/or regulation of ER calcium homeostasis. Different types of WFS1 mutations have been identified, and some of these have been associated with a dominant, severe type of WS.

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Section: Dfna6/14/38 Nonsyndromic Low-frequency Sensorineural Hearingmentioning

confidence: 99%

Genetic and clinical aspects of Wolfram syndrome 1, a severe neurodegenerative disease

et al. 2018

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“…Furthermore, case 4 did not have family history of hearing loss and so may be another case of a de novo mutation of WFS1 . There are three reports about sporadic cases of DFNA6/14/38; however, our study is the first report to confirm de novo mutations of WFS1 by parental genetic analysis. These results suggest that de novo mutation may be a major mechanism of WSF1 disruption.…”

Section: Discussionmentioning

confidence: 54%

“…Low-frequency sensorineural hearing loss (LFSNHL) shows a characteristic configuration of audiogram, and is much less common than high-frequency hearing loss and flat-type hearing loss in nonsyndromic sensorineural hearing loss (SNHL). [3][4][5][6] Four genes-DIAPH1, MYO7A, WFS1, and CCD50-are known to be responsible for nonsyndromic hereditary LFSNHL in autosomal dominant nonsyndromic deafness 1 (DFNA1), DFNA11, DFNA6/14/ 38, and DFNA44, respectively. 3,4,[7][8][9][10] DFNA54 is another form of nonsyndromic hereditary LFSNHL; however, the responsible gene(s) is yet to be identified.…”

Section: Introductionmentioning

confidence: 99%

WFS1 and GJB2 mutations in patients with bilateral low‐frequency sensorineural hearing loss

et al. 2017

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“…(20). Nuestro estudio muestra que este exón tiene baja cobertura en el 100% de las muestras y presenta un contenido de GC problemático según la bibliografía (61.51%).…”

Section: Genunclassified

Encoding regions with low coverage in massive sequencing of genes of no syndromic autosomal dominant hearing loss

Morales¹,

Roman‐Naranjo²,

Requena³

2017

Actual. Med.

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Regiones codifi cantes con baja cobertura en la secuenciación masiva de genes de hipoacusia no sindrómica autosómica dominante ResumenIntroducción: La hipoacusia es una de las alteraciones sensoriales más frecuentes, afectando aproximadamente a uno de cada 500 nacimientos, y pudiendo producirse a cualquier edad en individuos sanos. Gracias a las técnicas de secuenciación masiva, como el análisis del exoma completo, y al uso de estrictos protocolos de fi ltrado de variantes, se han identi fi cado más de 100 loci relacionados con la hipoacusia no sindrómica. El objeti vo de este estudio es diseñar un protocolo para la identi fi cación de las secuencias nucleotí dicas de baja cobertura a parti r de datos de secuenciación de exoma, parti cularmente en los genes causales de hipoacusia no sindrómica autosómica dominante. Materiales y métodos: Cincuenta y cinco individuos (15 pacientes con enfermedad de Meniere y 40 controles) fueron seleccionados para llevar a cabo un análisis genómico mediante secuenciación de exoma completo. Los exones de los genes asociados a hipoacusia no sindrómica autosómica dominante de estas 55 muestras fueron analizados mediante el soft ware Integrati ve Genome Viewer. Los datos de cobertura se contrastaron con las bases de datos de secuencias de exoma y genoma actuales. Finalmente, se simularon las estructuras primaria y secundaria de las secuencias implicadas con la herramienta bioinformáti ca mfold. Resultados: Trece de los 34 genes de hipoacusia no sindrómica autosómica dominante presentaron una baja cobertura. Veinte de las 24 secuencias exónicas con baja cobertura presentaban un contenido de GC más elevado del considerado como ópti mo, y todas ellas contenían, al menos, una estructura secundaria. Los genes con un mayor número de exones con baja cobertura son MYH14, WFS1 y P2RX2. Conclusiones: 1.La secuenciación del exoma humano muestra que muchos de los genes de hipoacusia autosómica no sindrómica dominante presentan baja cobertura en algunos de sus exones. 2.El análisis del contenido de guaninas y citosinas, y la presencia de estructuras secundarias determinan secuencias específi cas con problemas de lectura. 3.Es necesario validar los resultados obtenidos por la Secuenciación de Nueva Generación para evitar posibles falsos positi vos. AbstractIntroducti on: Hearing loss is one of the most frequent sensory alterati ons, aff ecti ng approximately one in 500 births, and it may occur de novo at any age in healthy individuals. Thanks to massive sequencing techniques, such as whole exome sequencing, and the use of strict variant fi ltering protocols, more than 100 loci related to non-syndromic hearing loss have been identi fi ed. The aim of this study is to design a protocol for the identi fi cati on of low coverage nucleoti de sequences from exome sequencing data, parti cularly in the genes responsible for non-syndromic autosomal dominant hearing loss. Materials y methods: Fift y-fi ve individuals (15 cases with Meniere's disease and 40 controls) were selected to perform a genomic analysis...

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Identification of two novel missense WFS1 mutations, H696Y and R703H, in patients with non-syndromic low-frequency sensorineural hearing loss

Cited by 25 publications

References 12 publications

Genetic and clinical aspects of Wolfram syndrome 1, a severe neurodegenerative disease

Genetic and clinical aspects of Wolfram syndrome 1, a severe neurodegenerative disease

WFS1 and GJB2 mutations in patients with bilateral low‐frequency sensorineural hearing loss

Encoding regions with low coverage in massive sequencing of genes of no syndromic autosomal dominant hearing loss

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