OMIM: 220110Inheritance: Multiple
Classification: Endocrine, nutritional and metabolic disease
Related informations: Orphanet Gene Tests Clinical Synopsis Clinical Trials| Gene/Locus: | PET100 |
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| Dna Change: | c.3G>C |
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| Protein Change: | p.Met1? |
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| Mutation Type: | Substitution |
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| Mutation Effect: | Frameshift |
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| Location: | exon 1 |
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| Transcript: | NM_001171155.1 |
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| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
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| Lebanon | NA | NA | 8 families/6 families | 520 years ago | Lim SC et al., 2014Lim SC, Smith KR, Stroud DA, Compton AG, Tucker EJ, Dasvarma A, Gandolfo LC, Marum JE, McKenzie M, Peters HL, Mowat D, Procopis PG, Wilcken B, Christodoulou J, Brown GK, Ryan MT, Bahlo M, Thorburn DR, . A founder mutation in PET100 causes isolated complex IV deficiency in Lebanese individuals with Leigh syndrome.. Am. J. Hum. Genet.. 2014; 94(2):209-22 |
References
Lim SC, Smith KR, Stroud DA, Compton AG, Tucker EJ, Dasvarma A, Gandolfo LC, Marum JE, McKenzie M, Peters HL, Mowat D, Procopis PG, Wilcken B, Christodoulou J, Brown GK, Ryan MT, Bahlo M, Thorburn DR, A founder mutation in PET100 causes isolated complex IV deficiency in Lebanese individuals with Leigh syndrome.Am. J. Hum. Genet.. 2014; 94(2):209-22