Atypical presentation of Leigh syndrome associated with a Leber hereditary optic neuropathy primary mitochondrial DNA mutation

Molecular Genetics and Metabolism - Tập 103 - Trang 153-160 - 2011
Gary Fruhman1,2, Megan L. Landsverk1, Timothy E. Lotze3, Jill V. Hunter4, Michael F. Wangler1, Adekunle M. Adesina5, Lee-Jun C. Wong1, Fernando Scaglia1
1Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
2Department of Obstetrics and Gynecology, Baylor College of Medicine, Houston, TX, USA
3Department of Pediatrics, Division of Pediatric Neurology, Baylor College of Medicine, Baylor College of Medicine, Houston, TX, USA
4Department of Radiology, Baylor College of Medicine, Houston, TX, USA
5Department of Pathology, Baylor College of Medicine, Houston, TX USA

Tài liệu tham khảo

Thorburn, 2001, Mitochondrial disorders: genetics, counseling, prenatal diagnosis and reproductive options, Am. J. Med. Genet., 106, 102, 10.1002/ajmg.1380 Singh, 1989, A mitochondrial DNA mutation as a cause of Leber's hereditary optic neuropathy, N. Engl. J. Med., 320, 1300, 10.1056/NEJM198905183202002 Mackey, 1996, Primary pathogenic mtDNA mutations in multigeneration pedigrees with Leber hereditary optic neuropathy, Am. J. Hum. Genet., 59, 481 Harding, 1992, Occurrence of a multiple sclerosis-like illness in women who have a Leber's hereditary optic neuropathy mitochondrial DNA mutation, Brain, 115, 979, 10.1093/brain/115.4.979 Hudson, 2007, Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup background, Am. J. Hum. Genet., 81, 228, 10.1086/519394 Wallace, 2001, Mitochondria and neuroophthalmologic diseases, 2425 Leigh, 1951, Subacute necrotizing encephalomyelopathy in an infant, J. Neurol. Neurosurg. Psychiatry, 14, 216, 10.1136/jnnp.14.3.216 Saneto, 2008, Neuroimaging of mitochondrial disease, Mitochondrion, 8, 396, 10.1016/j.mito.2008.05.003 Finsterer, 2008, Leigh and Leigh-like syndrome in children and adults, Pediatr. Neurol., 39, 223, 10.1016/j.pediatrneurol.2008.07.013 Rahman, 1996, Leigh syndrome: clinical features and biochemical and DNA abnormalities, Ann. Neurol., 39, 343, 10.1002/ana.410390311 Brautbar, 2008, The mitochondrial 13513G>A mutation is associated with Leigh disease phenotypes independent of complex I deficiency in muscle, Mol. Genet. Metab., 94, 485, 10.1016/j.ymgme.2008.04.004 Wong, 1997, Direct detection of multiple point mutations in mitochondrial DNA, Clin. Chem., 43, 1857, 10.1093/clinchem/43.10.1857 Shanske, 2004, Molecular analysis for mitochondrial DNA disorders, Mitochondrion, 4, 403, 10.1016/j.mito.2004.07.026 Bai, 2004, Detection and quantification of heteroplasmic mutant mitochondrial DNA by real-time amplification refractory mutation system quantitative PCR analysis: a single-step approach, Clin. Chem., 50, 996, 10.1373/clinchem.2004.031153 Wang, 2009, Two mtDNA mutations 14487T>C (M63V, ND6) and 12297T>C (tRNA Leu) in a Leigh syndrome family, Mol. Genet. Metab., 96, 59, 10.1016/j.ymgme.2008.10.006 Ware, 2009, Infantile cardiomyopathy caused by a mutation in the overlapping region of mitochondrial ATPase 6 and 8 genes, J. Med. Genet., 46, 308, 10.1136/jmg.2008.063149 Kirby, 2007, Biochemical assays of respiratory chain complex activity, Methods Cell Biol., 80, 93, 10.1016/S0091-679X(06)80004-X Ma, 2010, Mitochondrial dysfunction in human breast cancer cells and their transmitochondrial cybrids, Biochim. Biophys. Acta, 1797, 29, 10.1016/j.bbabio.2009.07.008 Wong, 2007, Mutations in the MPV17 gene are responsible for rapidly progressive liver failure in infancy, Hepatology, 46, 1218, 10.1002/hep.21799 Bai, 2005, Simultaneous detection and quantification of mitochondrial DNA deletion(s), depletion, and over-replication in patients with mitochondrial disease, J. Mol. Diagn., 7, 613, 10.1016/S1525-1578(10)60595-8 Dimmock, 2010, Quantitative evaluation of the mitochondrial DNA depletion syndrome, Clin. Chem., 56, 1119, 10.1373/clinchem.2009.141549 Sheu, 1981, Pyruvate dehydrogenase complex activity in normal and deficient fibroblasts, J. Clin. Invest., 67, 1463, 10.1172/JCI110176 Kerr, 1987, Systemic deficiency of the first component of the pyruvate dehydrogenase complex, Pediatr. Res., 22, 312, 10.1203/00006450-198709000-00015 Newman, 1991, The clinical characteristics of pedigrees of Leber's hereditary optic neuropathy with the 11778 mutation, Am. J. Ophthalmol., 111, 750, 10.1016/S0002-9394(14)76784-4 Johns, 1993, Leber's hereditary optic neuropathy. Clinical manifestations of the 14484 mutation, Arch. Ophthalmol., 111, 495, 10.1001/archopht.1993.01090040087038 Nikoskelainen, 1995, Leber's “plus”: neurological abnormalities in patients with Leber's hereditary optic neuropathy, J. Neurol. Neurosurg. Psychiatry, 59, 160, 10.1136/jnnp.59.2.160 Tarnopolsky, 2004, Clinical variability in maternally inherited Leber hereditary optic neuropathy with the G14459A mutation, Am. J. Med. Genet. A, 124A, 372, 10.1002/ajmg.a.20449 Gropman, 2004, Variable clinical manifestation of homoplasmic G14459A mitochondrial DNA mutation, Am. J. Med. Genet. A, 124A, 377, 10.1002/ajmg.a.20456 Kato, 2010, Extensive and rapid screening for major mitochondrial DNA point mutations in patients with hereditary hearing loss, J. Hum. Genet., 55, 147, 10.1038/jhg.2009.143 Ceranic, 2004, Progressive auditory neuropathy in patients with Leber's hereditary optic neuropathy, J. Neurol. Neurosurg. Psychiatry, 75, 626, 10.1136/jnnp.2003.017673 Perez, 2009, Leber's optic neuropathy associated with disseminated white matter disease: a case report and review, Clin. Neurol. Neurosurg., 111, 83, 10.1016/j.clineuro.2008.06.021 Kirby, 2000, Leigh disease caused by the mitochondrial DNA G14459A mutation in unrelated families, Ann. Neurol., 48, 102, 10.1002/1531-8249(200007)48:1<102::AID-ANA15>3.0.CO;2-M Funalot, 2002, Leigh-like encephalopathy complicating Leber's hereditary optic neuropathy, Ann. Neurol., 52, 374, 10.1002/ana.10299 Paulus, 1993, Central nervous system involvement in Leber's optic neuropathy, J. Neurol., 240, 251, 10.1007/BF00818714 Meire, 1995, Neurological disorders in members of families with Leber's hereditary optic neuropathy (LHON) caused by different mitochondrial mutations, Ophthalmic Genet., 16, 119, 10.3109/13816819509059971 La Morgia, 2008, Rare mtDNA variants in Leber hereditary optic neuropathy families with recurrence of myoclonus, Neurology, 70, 762, 10.1212/01.wnl.0000295505.74234.d0 Qu, 2006, The novel A4435G mutation in the mitochondrial tRNAMet may modulate the phenotypic expression of the LHON-associated ND4 G11778A mutation, Invest. Ophthalmol. Vis. Sci., 47, 475, 10.1167/iovs.05-0665 Li, 2006, The mitochondrial tRNA(Thr) A15951G mutation may influence the phenotypic expression of the LHON-associated ND4 G11778A mutation in a Chinese family, Gene, 376, 79, 10.1016/j.gene.2006.02.014 Hudson, 2005, Identification of an X-chromosomal locus and haplotype modulating the phenotype of a mitochondrial DNA disorder, Am. J. Hum. Genet., 77, 1086, 10.1086/498176 McFarland, 2007, Homoplasmy, heteroplasmy, and mitochondrial dystonia, Neurology, 69, 911, 10.1212/01.wnl.0000267843.10977.4a