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18 patient data entries in database for mutations A467T and PNF. Entry
# | | Mutations | | allele 1 | allele 2 |
| Clinical representation | Symptoms | Age group | Age of onset | Age of patient | Age of death | Reference | | | 256 | Nonsense
mutation:
W1020X
| A467T2
| Refractory seizures, psychomotor regression, liver disease, presenting symptom was status epilepticus, Transient hypoglycemia, Transient lactic academia, hypercoagulable state | | | 0.8 | n/a | 1 | Nguyen et al, 2005; [view data] | | 285 | Splice site
mutation:
c.2157+5_6GC>AG
| A467T2
| speech and motor delay at 1.5 yr, seizure that included eye deviation, jaw clenching, and hypotonia of the trunk and extremities. He experienced repetitive generalized tonic-clonic seizures that evolved into refractory status epilepticus, severe encephalopathy characterized by choreo-athetoid movements, corticovisual impairment, diffuse hypotonia, and severe swallowing dysfunction, elevated plasma lactate, CSF lactate and protein were both elevated, Liver transaminases remained mildly elevated. dysphagia. | | | 1.5 | n/a | n/a | Lutz et al, 2009; [view data] | | 611 | Splice site
mutation:
IVS20nt+2T>C
| A467T2
| Seizures, Alpers syndrome, Jaundice at 9 months and liver enlargement. | | | 0.66 | n/a | n/a | Sarzi et al, 2007; [view data] | | 612 | Frameshift:
c.975_976insCT326fsX387
| A467T2
| Myoclonus epilepsy, Epilepsy, Alpers syndrome, steatosis, death at 3 years | | | 3 | n/a | 3 | Sarzi et al, 2007; [view data] | | 623 | Splice site
mutation:
c.2157+5_+6gc>ag
| A467T2
| Alpers, stroke, hypotonia, Dementia, developmental delay, seizures. | | | 1 | n/a | n/a | Wong et al, 2008; [view data] | | 624 | Q1236H
Frameshift:
p.T849H(insC)fs868X
| A467T2
| Alpers, chorea, microcephaly, leukodystrophy, Seizures, Dementia, developmental delay. | | | 1.5 | n/a | n/a | Wong et al, 2008; [view data] | | 635 | Frameshift:
p.L424GfsX28
| A467T2
| Developmental delay, dementia, seizures, Alpers, Family history of acute liver failure | | | 1 | n/a | n/a | Wong et al, 2008; [view data] | | 636 | Nonsense
mutation:
Q68X
| A467T2
| Developmental delay, dementia, seizures, Alpers, Ptosis, ataxia, visual hallucinations | | - | movement disorder (ataxia) | |
| | 3 | n/a | n/a | Wong et al, 2008; [view data] | | 637 | Nonsense
mutation:
Q715X
| A467T2
| Developmental delay, dementia, seizures, Alpers | | | 4 | n/a | n/a | Wong et al, 2008; [view data] | | 645 | Nonsense
mutation:
E873X
| A467T2
Nonsense
mutation:
E873X
| His speech and motor development were normal until 19 months of age when he developed an episode of encephalopathy, ataxia, and hypertonia associated with an acute febrile illness. At 30 months, he developed a refractory focal myoclonic seizure disorder. His terminal admission was associated with a documented Rotavirus infection. At this time, he was noted to have cortical blindness, epilepsia partialis continua, and acute liver failure (hepatic failure). lactic acidemia. He was well until 19 months of age, when he experienced an acute febrile illness with anorexia, vomiting, and diarrhea. This was complicated by acute truncal ataxia, lethargy, and hypertonicity. | | - | movement disorder (ataxia) | |
| | 1.58 | n/a | 3.5 | Naviaux and Nguyen, 2004; [view data] | | 646 | Nonsense
mutation:
E873X
| A467T2
Nonsense
mutation:
E873X
| He had been well and developmentally normal until 15 months when he suffered 3 days of a diarrheal illness and required admission for new ataxia and encephalopathy. On the day of admission, he developed status epilepticus and was intubated for 3 weeks for aspiration pneumonia. He developed progressive hepatic failure and cortical blindness. He remained in a vegetative state until he died. Autopsy showed massive cerebellar and cerebral atrophy. | | - | movement disorder (ataxia) | |
| | 1.25 | n/a | 1.3 | Naviaux and Nguyen, 2004; [view data] | | 647 | Nonsense
mutation:
E873X
| A467T2
Nonsense
mutation:
E873X
| At 11 months, she developed otitis media and shortly thereafter she was admitted to the intensive care unit and intubated and treated for 2 days for apnea associated with an episode of absence status epilepticus. Brain computed tomography at that time was normal. Her gait was ataxic after recovery, and she had bouts of epilepsia partialis continua, initially involving the left hand. At 16 months, she suffered another episode of status epilepticus requiring intubation for airway protection and ventilatory support. Head control was lost permanently after this episode. she was found to have cortical blindness, and brain magnetic resonance imaging showed marked cerebral atrophy without focal abnormalities. A liver biopsy showed chronic and acute liver disease with micronodular cirrhosis, hepatocyte dropout, microvesicular fat, and bile ductular proliferation. The diagnosis of Alpers’ syndrome was made at that time. refractory partial seizures, scoliosis, quadriparesis, tracheomalacia, and osteoporosis and was aphasic. | | | 0.9 | n/a | 10 | Naviaux and Nguyen, 2004; [view data] | | 648 | Nonsense
mutation:
R374X
| A467T2
| Epilepsy, hepatopathy, movement disorder (present but not prominent) | | - | movement disorder (ataxia) | |
| | 0.33 | n/a | n/a | Ashley et al, 2008; [view data] | | 649 | Indel:
W347_L365del
| A467T2
| Epilepsy, hepatopathy, movement disorder (present but not prominent) | | - | movement disorder (ataxia) | |
| | 0.58 | n/a | n/a | Ashley et al, 2008; [view data] | | 666 | Splice site
mutation:
c.1250+5G>C
| A467T2
| Parkinsons, PEO, short-term memory problems, general cerebral and cerebellar atrophy. | | | 50 | 81 | n/a | Martikainen et al, 2016; [view data] | | 684 | Nonsense
mutation:
E873X
| A467T2
| mtDNA depletion (30% in muscle), epilepsy, hepatopathy, movement disorder | | - | movement disorder (ataxia) | |
| | 1.5 | n/a | n/a | Ashley et al, 2008; [view data] | | 703 | Splice site
mutation:
c.3482+2T>C
| A467T2
| mental and motor developmental delay. At the age of 7 years, strabismus convergens\\ occurred. headache and nausea and\\ then presented with a generalized tonic-clonic seizure. myoclonia, focal motor seizures evolved into epilepsia partialis continua. Alpers. During the first 4 months of his illness, the boy became blind and incontinent and lost his ability to walk freely. During the\\ ensuing years, a further slight loss of mental and motor capabilities and several episodes of status epilepticus occurred. | | | 4 | 11 | n/a | Flemming, et al 2002; [view data] | | 706 | Nonsense
mutation:
c.3626_3629dupGATA
| A467T2
| Alpers. At 1 year of age, she presented a rightsided clonic status epilepticus resistant to multiple antiepileptic drugs. Carbamazepine worsened myoclonic jerks. A ketogenic diet was well tolerated but was ineffective. At 12 months, dramatic psychomotor regression was observed with poor interaction, major global hypotonia and no eye contact due to cortical blindness. epilepsia partialis continua reinforced by recurrent episodes of tonic clonic seizures. At 16 months of age, liver enlargement was noticed associated with mild cytolysis. The patient died at 27 months of age of respiratory failure. | | | 0.5 | n/a | 2.25 | Mousson de Camaret et al, 2011 [view data] |
1-5 pathogenic cluster assignment of mutations. Mutations displayed without a superscript number are outside of the assigned pathogenic clusters. See cluster definitions for details. Number of displayed patient cases: 18
Number of patient cases marked as outliers: 1 (cases excluded from avg: 666)
Avg age of onset in displayed cases: 1.6
Std dev in onset in displayed cases: 1.1
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