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All inquiries, additions to the list, and comments should be made to Bill Copeland.
Amino Acid Substitution: P587L
cDNA Position: 1760 c→t (exon 10)
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Disease | Genetics | Frequency | Reference |
PEO, neuropathy, and hearing loss | Found in trans w/ Q1236H in 2 different families and affected siblings | Filosto, 2003: not detected in 120 healthy control alleles. | (Filosto et al., 2003) PubMed |
PEO and mtDNA deletions | Found in compound w/T251I/ R807P in1 pt. and w/T251I/ H932Y in a 2nd pt. A 3rd pt. was found in compound w/T251 only. The study includes 31 mitochondrial myopathy patients w/ mtDNA deletions. | Di Fonzo 2003: Not found in 100 DNA samples from healthy Italians. | (Di Fonzo et al., 2003) PubMed |
PEO | Found in compound w/T251I and N864S in 2 sisters. | Van Goethem, 2003: Not found in 280 control chromosomes. | (Van Goethem et al., 2003c) PubMed |
Infantile Hepatocerebral Syndrome | Found in compound w/T251I and R232G | Ferrari et al., 2005 reported 1 in 9 (11.11%) children with a combination of progressive neurological and hepatic failure, with a heterozygous frequency of 1% of Italian controls. | (Ferrari et al., 2005) PubMed |
PEO | Found in compound w/T251I and G8484S in a 75 y.o. male |
(Kollberg et al., 2005) PubMed |
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PEO | Found as compound in trans w/ S1176L, G848S, G785X, V1106I, R309L and R227W and cis w/ T251I. Also, T251I/P587L was found as a homozygous mutation. | (Lamantea and Zeviani, 2004) PubMed |
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PEO | Found in cis w/T251I and trans w/M603L. Also found in trans w/ R853W (no T251I). All had mtDNA deletions. | 24 patients diagnosed with mitochondrial disease and having multiple mtDNA deletions compared to 100 controls in a Spanish population. | (Gonzalez-Vioque et al., 2006) PubMed |
Alpers | Found in cis w/ T251I and in trans w/ G848S, also found as a hetero. mutation with ataxia, ptosis, and neuropathy | (Wong et al., 2008) PubMed |
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Alpers | Found in trans w/R232G and in cis w/T251I. Also, in cis w/P589L and in trans w/W748S. | (Ashley et al., 2008) and a correction in (Ashley et al., 2009) PubMed |
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Alpers | Found in cis with T251I with both mutations on each allele. Also, found in cis w/A467T and in trans w/T251I. | (Stewart et al., 2009) PubMed |
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mtDNA depletion | In cis w/T251I and in trans w/E1136K | (Taanman et al., 2008) PubMed |
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Hepatocerebral MDS | Found in cis w/ T251I and in trans w/ R232G | (Spinazzola et al., 2009) PubMed |
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Restless leg syndrome, ptosis, diplopia, limb weakness, blurred vision | Found in trans with T251I. | (Aitken, et al., 2009) PubMed |
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PEO | Found in cis with W748S and in trans with T251I. | (Tzoulis, et al., 2009) PubMed |
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PEO and mental retardation | Found in cis w/ T251I and in trans w/ R275X | >0.5% of Dutch population | (Blok and van den Bosch et al., 2009) PubMed |
PEO, exercise intolerance, diabetes and a 2nd pt. w/ cataract and myopathy | Found in cis w/T251I and in trans w/A467T | >0.5% of Dutch population | (Blok and van den Bosch et al., 2009) PubMed |
Ptosis | Found in cis w/T251I and in trans w/G848S | >0.5% of Dutch population | (Blok and van den Bosch et al., 2009) PubMed |
PEO, ptosis, epilepsy, mental retardation, ataxia, polyneuropathy, and cataract | Ad, in cis w/T251I 3 patients: 4 yr. old w/PEO, ptosis, and motor delay development. A 10 yr. old with epilepsy and mental retardation, and 44 yr. old w/ cataract, polyneuropathy, myopathy, and ataxia | >0.5% of Dutch population | (Blok and van den Bosch et al., 2009) PubMed |
Seizures, hypotonia, and developmental delay | Found w/T251I | (Burusnukul and de los Reyes, 2009) PubMed |
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Acute disseminated encephalomyelitis | Found w/T251I, found in one 4 yr. old patient with autoimmune central nervous system disease | (Harris et al., 2010) PubMed |
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SANDO | Found sporadically w/T251I and G848S in a 80 yr. old male | (Weiss and Saneto, 2010) PubMed |
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Ptosis and myopathy | Found in cis with T251I and in trans with P648R in a 59 y.o. male with dysphagia, dysphonia, myopathy, ptosis, and mtDNA deletions. Father had same symptoms. | (Ferreira et al., 2011) PubMed |
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PEO | Found in cis w/ T251I and in trans w/ H932Y in a 31 y.o. w/ neuropathy, PEO, ptosis, and COX deficiency. | Found in a cohort of 2697 patients with suggestive clinical presentations of POLG deficiencies. | (Tang et al., 2011) PubMed |
Peripheral Neuropathy | Found in cis w/ T251I and in trans w/ H932Y in a 40 y.o. w/ peripheral neuropathy, ptosis, and muscle weakness. | Found in a cohort of 2697 patients with suggestive clinical presentations of POLG deficiencies. | (Tang et al., 2011) PubMed |
PEO | Found in cis w/ T251I and in trans w/ G848S in an 80 y.o. w/ peripheral neuropathy, ptosis, and abnormal muscle histology. | Found in a cohort of 2697 patients with suggestive clinical presentations of POLG deficiencies. | (Tang et al., 2011) PubMed |
PEO | Found in cis w/ T251I and in trans w/ K1191N in a 39 y.o. w/ PEO, neuropathy, ptosis, and muscle weakness | Found in a cohort of 2697 patients with suggestive clinical presentations of POLG deficiencies. | (Tang et al., 2011) PubMed |
Found in cis w/ T251I and in trans w/ N1157S in a 9 y.o. Symptoms not noted | Found in a cohort of 2697 patients with suggestive clinical presentations of POLG deficiencies. | (Tang et al., 2011) PubMed |
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Found in trans w/ G588D and in cis w/ T251I in a 6 y.o. w/ no symptoms noted | Found in a cohort of 2697 patients with suggestive clinical presentations of POLG deficiencies. | (Tang et al., 2011) PubMed |
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SANDO | Found in cis with T251I and in trans with A467T in a female in her 60's with a 5 year history of peripheral neuropathy, blurred vision, unstable gait, and sensory ataxia, dementia, and ophthalmoplegia. | (Lovan et al., 2013) PubMed |
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SANDO | Found in cis w/T251I and in trans w/R869Q in a 34 y.o. female with ataxia, ptosis, diabetes and mtDNA deletions. | (Hanisch et al., 2014) PubMed |
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PEO | Found in compound w/T251I and D1184N in a 33 y.o. female patient w/ chronic intestinal pseudo-obstruction, PEO, and ataxia. | In 5 out of 80 patients w/ chronic intestinal pseudo-obstruction | (Amiot et al., 2009) PubMed |
PEO | Found in compound w/T251I and D1184N in a 30 y.o. male patient w/ chronic intestinal pseudo-obstruction and PEO. | In 5 out of 80 patients w/ chronic intestinal pseudo-obstruction | (Amiot et al., 2009) PubMed |
Found in compound w/ P116Q and T251I in an Italian 8 y.o. female with fatigue,hypotonia, and delayed psychomotor development with no mtDNA depletion. Diabetic father was positive for P116Q and the deaf mother was positive for T251I and P587L. | 0 found in 200 chromosome controls | (Scuderi, et al., 2015) PubMed |
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Found in compound w/ P116QI and T251I in an Italian 14 y.o. male with fatigue,hypotonia, left eye ptosis, migrains, but normal cognitive skills. Diabetic father was positive for P116Q and the deaf mother was positive for T251I and P587L. | 0 found in 200 chromosome controls | (Scuderi, et al., 2015) PubMed |
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Parkinsonism and PEO | Found in cis w/T251I and in trans w/W468X. Found in a 68 y.o. female w/ exercise intolerance, PEO, facial diparesis, and left-dominant postural tremor. | (Miguel, et al., 2014) PubMed |
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PEO | Found in cis with T251I and in trans w/W748S in a 50 y.o.with PEO and myopathy. In a study that suggests that dopaminergic neurons are vulnerable to the accumulation of somatic mtDNA damage, and defects of mtDNA replication and repair. | (Tzoulis et al., 2016) PubMed |
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SANO (Sensory Ataxic Neuropathy and Ophthalmoparesis) | Found in trans w/G848S and in cis w/T251I with PEO, muscle weakness, and cognitive impairment. Similar to SANDO, but no dysarthria. | (Bereau et al., 2016) PubMed |
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SANO (Sensory Ataxic Neuropathy and Ophthalmoparesis) | Found in trans w/S1095R and in cis w/T251I with PEO, muscle weakness, ataxia, and polyneuropathy. Similar to SANDO, but no dysarthria. | (Bereau et al., 2016) PubMed |
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SANDO | Found in trans w/R232H and H227L and in cis w/P587L in a 26 y.o. with PEO, cognitive impairment, ataxia, polyneuropathy, msucle weakness, migraines, dysphagia, and dysarthria. | (Bereau et al., 2016) PubMed |
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PEO | Found in cis with T251I and in trans w/A467T in a 30 y.o. with muscle weaknes and PEO. | (Bereau et al., 2016) PubMed |
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SANDO | Found in cis w/T251I and in trans w/R232H and H277L in a 40 y.o. with PEO, ataxia, polyneuropathy, and dysarthria. | (Bereau et al., 2016) PubMed |
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SANO (Sensory Ataxic Neuropathy and Ophthalmoparesis) | Found in trans w/R852C and in cis w/T251I in a 50 y.o. with PEO, muscle weakness, and polyneuropathy. Similar to SANDO, but no dysarthria. | (Bereau et al., 2016) PubMed |
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PEO | Found in trans w/A467T and in cis w/T251I in a 56 y.o. with PEO, muscle weakness, and dysphagia. | (Bereau et al., 2016) PubMed |
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SANO (Sensory Ataxic Neuropathy and Ophthalmoparesis) | Found in trans w/A467T and in cis w/T251I in a 58 y.o. with ataxia, sensory neuropathy, and dysphagia. | (Bereau et al., 2016) PubMed |
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SANO (Sensory Ataxic Neuropathy and Ophthalmoparesis) | Found in trans w/A467T and in cis w/T251I in a 66 y.o. with ataxia, sensory neuropathy, and PEO. | (Bereau et al., 2016) PubMed |
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PEO | Found in cis w/T251I on both allesls with ptosis and dysphagia | (Bereau et al., 2016) PubMed |
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SANO (Sensory Ataxic Neuropathy and Ophthalmoparesis) | Found in trans w/T251I and P587L with ataxia, sensory neruopathy, PEO, deafness, and dysphagia. | (Bereau et al., 2016) PubMed |
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PEO | Found in cis with T251I and in trans w/T989dup in a 36 y.o. female with cornieal edema and muscle weakness. One brother affected and has both variants and one unaffected sister with no mutations. | Not found in 100 random controls | (Pozzo et al., 2017) PubMed |
Neuropathy w/ cataracts and glaucome | Found in trans with R943C and in cis withT25lI in an 8 mo. female with uppper and lower limb distal neuromyopathy with ragged red fiberes, cataracts. Later developed ophthalmoparesis, glaucoma, and muscle wasting. | (Castiglioni et al., 2018) PubMed |
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Neuropathy w/ cataracts and glaucome | Found in trans with R943C and in cis with T251I in an 24 mo. female with uppper and lower limb distal neuromyopathy with ragged red fiberes, cataracts. Later developed ophthalmoparesis, glaucoma, and muscle wasting. | (Castiglioni et al., 2018) PubMed |
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Late-onset MDS | Found as compound heterozygous in cis with T251I and in trans with R807C in a 70 year-old man presenting with a late onset sensory neuronopathy, chronic progressive external ophthalmoplegia, gait ataxia and parkinsonism. | (Meira et al., 2019) PubMed |
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MDS | Found in a large cohort study. | (Hikmat et al., 2020) PubMed |
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Epilepsy | Found in a cross-sectional study of 22676 genetic variants associated with epilepsy | (SoRelle et al., 2020) PubMed |