Homoplasmy of the G7444A mtDNA and heterozygosity of the GJB2 c.35delG mutations in a family with hearing loss

Haris Kokotas; Maria Grigoriadou; Yang Li; Marianne Lodahl; Nanna Dahl Rendtorff; Yolanda Gyftodimou; George S Korres; Elisabeth Ferekidou; Dimitrios Kandiloros; Stavros Korres; Lisbeth Tranebjærg; Min-Xin Guan; Michael Bang Petersen

doi:10.1016/j.ijporl.2010.10.016

Homoplasmy of the G7444A mtDNA and heterozygosity of the GJB2 c.35delG mutations in a family with hearing loss

Haris Kokotas, Maria Grigoriadou, Yang Li, Marianne Lodahl, Nanna Dahl Rendtorff, Yolanda Gyftodimou, George S Korres, Elisabeth Ferekidou, Dimitrios Kandiloros, Stavros Korres, Lisbeth Tranebjærg, Min-Xin Guan, Michael Bang Petersen

Afdeling for Øre-Næse-Halskirurgi og Audiologi

11 Citationer (Scopus)

Abstract

Mitochondrial mutations have been shown to be responsible for syndromic as well as non-syndromic hearing loss. The G7444A mitochondrial DNA mutation affects COI/the precursor of tRNA(Ser(UCN)), encoding the first subunit of cytochrome oxidase. Here we report on the first Greek family with the G7444A mitochondrial DNA mutation.

Originalsprog	Engelsk
Tidsskrift	International Journal of Pediatric Otorhinolaryngology
Vol/bind	75
Udgave nummer	1
Sider (fra-til)	89-94
Antal sider	6
ISSN	0165-5876
DOI	https://doi.org/10.1016/j.ijporl.2010.10.016
Status	Udgivet - 1 jan. 2011

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10.1016/j.ijporl.2010.10.016

Citationsformater

Kokotas, H., Grigoriadou, M., Li, Y., Lodahl, M., Rendtorff, N. D., Gyftodimou, Y., Korres, G. S., Ferekidou, E., Kandiloros, D., Korres, S., Tranebjærg, L., Guan, M.-X., & Petersen, M. B. (2011). Homoplasmy of the G7444A mtDNA and heterozygosity of the GJB2 c.35delG mutations in a family with hearing loss. International Journal of Pediatric Otorhinolaryngology, 75(1), 89-94. https://doi.org/10.1016/j.ijporl.2010.10.016

Kokotas, H, Grigoriadou, M, Li, Y, Lodahl, M, Rendtorff, ND, Gyftodimou, Y, Korres, GS, Ferekidou, E, Kandiloros, D, Korres, S, Tranebjærg, L, Guan, M-X & Petersen, MB 2011, 'Homoplasmy of the G7444A mtDNA and heterozygosity of the GJB2 c.35delG mutations in a family with hearing loss', International Journal of Pediatric Otorhinolaryngology, bind 75, nr. 1, s. 89-94. https://doi.org/10.1016/j.ijporl.2010.10.016

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abstract = "Mitochondrial mutations have been shown to be responsible for syndromic as well as non-syndromic hearing loss. The G7444A mitochondrial DNA mutation affects COI/the precursor of tRNA(Ser(UCN)), encoding the first subunit of cytochrome oxidase. Here we report on the first Greek family with the G7444A mitochondrial DNA mutation.",

author = "Haris Kokotas and Maria Grigoriadou and Yang Li and Marianne Lodahl and Rendtorff, {Nanna Dahl} and Yolanda Gyftodimou and Korres, {George S} and Elisabeth Ferekidou and Dimitrios Kandiloros and Stavros Korres and Lisbeth Tranebj{\ae}rg and Min-Xin Guan and Petersen, {Michael Bang}",

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AU - Kokotas, Haris

AU - Grigoriadou, Maria

AU - Li, Yang

AU - Lodahl, Marianne

AU - Rendtorff, Nanna Dahl

AU - Gyftodimou, Yolanda

AU - Korres, George S

AU - Ferekidou, Elisabeth

AU - Kandiloros, Dimitrios

AU - Korres, Stavros

AU - Tranebjærg, Lisbeth

AU - Guan, Min-Xin

AU - Petersen, Michael Bang

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N2 - Mitochondrial mutations have been shown to be responsible for syndromic as well as non-syndromic hearing loss. The G7444A mitochondrial DNA mutation affects COI/the precursor of tRNA(Ser(UCN)), encoding the first subunit of cytochrome oxidase. Here we report on the first Greek family with the G7444A mitochondrial DNA mutation.

AB - Mitochondrial mutations have been shown to be responsible for syndromic as well as non-syndromic hearing loss. The G7444A mitochondrial DNA mutation affects COI/the precursor of tRNA(Ser(UCN)), encoding the first subunit of cytochrome oxidase. Here we report on the first Greek family with the G7444A mitochondrial DNA mutation.

U2 - 10.1016/j.ijporl.2010.10.016

DO - 10.1016/j.ijporl.2010.10.016

M3 - Journal article

C2 - 21056478

SN - 0165-5876

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SP - 89

EP - 94

JO - International Journal of Pediatric Otorhinolaryngology

JF - International Journal of Pediatric Otorhinolaryngology

IS - 1

ER -

Homoplasmy of the G7444A mtDNA and heterozygosity of the GJB2 c.35delG mutations in a family with hearing loss

Abstract

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