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

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

Medical Genetics Program

10 Citations (Scopus)

Abstract

Objective: 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. Methods: Clinical, cytogenetic, and molecular methods were employed in this study. Results: We describe the high variability of phenotypes among three family members harboring the G7444A mutation and also the frequent GJB2 c.35delG mutation of the nuclear genome in heterozygosity. Their phenotypes ranged from normal hearing to deafness, while the proband presented with several other symptoms. Conclusions: The G7444A mitochondrial DNA mutation has been reported in only a few cases worldwide, alone or in cosegregation with other mitochondrial DNA mutations, but to our knowledge, never before in coexistence with the GJB2 c.35delG mutation.

Original language	English
Journal	International Journal of Pediatric Otorhinolaryngology
Volume	75
Issue number	1
Pages (from-to)	89-94
Number of pages	6
ISSN	0165-5876
DOIs	https://doi.org/10.1016/j.ijporl.2010.10.016
Publication status	Published - 1 Jan 2011

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Kokotas, H., Grigoriadou, M., Yang, L., Lodahl, M., Rendtorff, N. D., Gyftodimou, Y., Korres, G. S., Ferekidou, E., Kandiloros, D., Korres, S., Tranebjærg, L., Guan, M.-X., Petersen, M. B., Kokotas, H., Grigoriadou, M., Li, Y., Lodahl, M., Rendtorff, N. D., Gyftodimou, Y., ... 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, Yang, L, Lodahl, M, Rendtorff, ND, Gyftodimou, Y, Korres, GS, Ferekidou, E, Kandiloros, D, Korres, S, Tranebjærg, L, Guan, M-X, Petersen, MB, 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, vol. 75, no. 1, pp. 89-94. https://doi.org/10.1016/j.ijporl.2010.10.016

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

abstract = "Objective: 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 tRNASer(UCN), encoding the first subunit of cytochrome oxidase. Here we report on the first Greek family with the G7444A mitochondrial DNA mutation. Methods: Clinical, cytogenetic, and molecular methods were employed in this study. Results: We describe the high variability of phenotypes among three family members harboring the G7444A mutation and also the frequent GJB2 c.35delG mutation of the nuclear genome in heterozygosity. Their phenotypes ranged from normal hearing to deafness, while the proband presented with several other symptoms. Conclusions: The G7444A mitochondrial DNA mutation has been reported in only a few cases worldwide, alone or in cosegregation with other mitochondrial DNA mutations, but to our knowledge, never before in coexistence with the GJB2 c.35delG mutation.",

author = "Haris Kokotas and Maria Grigoriadou and Li Yang 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 B} and 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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doi = "10.1016/j.ijporl.2010.10.016",

language = "English",

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pages = "89--94",

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T1 - Homoplasmy of the G7444A mtDNA and heterozygosity of the GJB2 c.35delG mutations in a family with hearing loss

AU - Kokotas, Haris

AU - Grigoriadou, Maria

AU - Yang, Li

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 B

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

PY - 2011/1/1

Y1 - 2011/1/1

N2 - Objective: 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 tRNASer(UCN), encoding the first subunit of cytochrome oxidase. Here we report on the first Greek family with the G7444A mitochondrial DNA mutation. Methods: Clinical, cytogenetic, and molecular methods were employed in this study. Results: We describe the high variability of phenotypes among three family members harboring the G7444A mutation and also the frequent GJB2 c.35delG mutation of the nuclear genome in heterozygosity. Their phenotypes ranged from normal hearing to deafness, while the proband presented with several other symptoms. Conclusions: The G7444A mitochondrial DNA mutation has been reported in only a few cases worldwide, alone or in cosegregation with other mitochondrial DNA mutations, but to our knowledge, never before in coexistence with the GJB2 c.35delG mutation.

AB - Objective: 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 tRNASer(UCN), encoding the first subunit of cytochrome oxidase. Here we report on the first Greek family with the G7444A mitochondrial DNA mutation. Methods: Clinical, cytogenetic, and molecular methods were employed in this study. Results: We describe the high variability of phenotypes among three family members harboring the G7444A mutation and also the frequent GJB2 c.35delG mutation of the nuclear genome in heterozygosity. Their phenotypes ranged from normal hearing to deafness, while the proband presented with several other symptoms. Conclusions: The G7444A mitochondrial DNA mutation has been reported in only a few cases worldwide, alone or in cosegregation with other mitochondrial DNA mutations, but to our knowledge, never before in coexistence with the GJB2 c.35delG 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

VL - 75

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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