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Homoplasmy of the G7444A mtDNA and heterozygosity of the GJB2 c.35delG mutations in a family with hearing loss |
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| Authors: | Kokotas Haris Grigoriadou Maria Yang Li Lodahl Marianne Rendtorff Nanna Dahl Gyftodimou Yolanda Korres George S Ferekidou Elisabeth Kandiloros Dimitrios Korres Stavros Tranebjærg Lisbeth Guan Min-Xin Petersen Michael B |
| Institution: | a Department of Genetics, Institute of Child Health, ‘Aghia Sophia’ Children's Hospital, Athens 11527, Greece b Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA c Wilhelm Johannsen Centre for Functional Genome Research, Department of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen, Denmark d B’ Department of Otorhinolaryngology - Head and Neck Surgery, Athens University Medical School, Attiko Hospital, Athens, Greece e A’ Department of Otorhinolaryngology - Head and Neck Surgery, Athens University Medical School, Hippokration Hospital, Athens, Greece f Department of Audiology, Bispebjerg Hospital, Copenhagen, Denmark g Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA |
| Abstract: | ObjectiveMitochondrial 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.MethodsClinical, cytogenetic, and molecular methods were employed in this study.ResultsWe 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.ConclusionsThe 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. |
| Keywords: | Mitochondrial DNA G7444A c 35delG Mutation Sensorineural deafness |
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