Homoplasmy of the G7444A mtDNA and heterozygosity of the GJB2 c.35delG mutations in a family with hearing loss
| Autor: | Lisbeth Tranebjærg, Marianne Lodahl, Maria Grigoriadou, Min-Xin Guan, Stavros Korres, Dimitrios Kandiloros, Michael B. Petersen, Elisabeth Ferekidou, Li Yang, Nanna Dahl Rendtorff, Yolanda Gyftodimou, Haris Kokotas, George S. Korres |
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| Rok vydání: | 2011 |
| Předmět: |
Male
Proband Mitochondrial DNA Hearing loss medicine.disease_cause DNA Mitochondrial Risk Assessment Connexins Loss of heterozygosity RNA Transfer otorhinolaryngologic diseases medicine Humans Point Mutation Cytochrome c oxidase Genetic Predisposition to Disease Hearing Loss Genetics Mutation Homoplasmy Greece biology business.industry Genetic Carrier Screening General Medicine Pedigree Connexin 26 Genes Mitochondrial Otorhinolaryngology Pediatrics Perinatology and Child Health Transfer RNA biology.protein Female medicine.symptom business Follow-Up Studies |
| Zdroj: | International Journal of Pediatric Otorhinolaryngology. 75:89-94 |
| ISSN: | 0165-5876 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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