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8 patient data entries in database for mutations W748S and PNF. Entry
# | | Mutations | | allele 1 | allele 2 |
| Clinical representation | Symptoms | Age group | Age of onset | Age of patient | Age of death | Reference | | | 428 | Indel:
p.Arg1161_Phe1180del20
| W748S5
| R-EPC (refractory epilepsia partialis continua), delayed psychomotor development. Has unrelated healthy parents. Pregnancy and birth were unremarkable. She had had a moderately delayed psychomotor development with sitting posture at 9 months of age and walking at 20 months of age. At 3 years old, she presented with acute partial status epilepticus. After this first episode, she developed refractory EPC with neurological regression leading to a severe encephalopathy. At 4 years, she was unable to hold her head up or to sit and had poor contact. Muscle biopsy showed lipid accumulation and spectrophotometric measurements of the indivi- dual RC complexes revealed CIII deficiency, associated with decreased activitiy of complexes II and V. In the liver, specific activity of complexes I, III and V was also affected. mtDNA depletion was identified by qPCR (25% of the mean normal control amount of mtDNA relative to nuclear DNA in the muscle and 30% in the liver). Sequencing identified only one heterozygous mutation (p.Trp748Ser) in POLG, inherited from the mother. | | | 2 | 4 | n/a | Rouzier et al, 2013; [view data] | | 610 | Frameshift:
nt2842_2843insAI948fsX968
| W748S5
E1143G
| Myoclonus, epilepsy, Psychomotor retardation, Alpers syndrome, steatosis | | | 0.25 | n/a | n/a | Sarzi et al, 2007; [view data] | | 626 | Splice site
mutation:
C.2480+1G>A
| W748S5
E1143G
| Muscle weakness, respiratory failure, Alpers, Lactic acidosis, Seizures, Demential , developmental delay | | | 4 | n/a | n/a | Wong et al, 2008; [view data] | | 650 | Splice site
mutation:
novelsplicemutation
| W748S5
| Alpers. At 7 months she developed focal clonic Status epilepticus. SE subsided slowly after a continuous infusion of valproic acid. she developed severe muscular hypotonia and feeding difficulties necessitating nasogastric feeding. Twelve weeks after disease onset, she was readmitted with vomiting and pneumonia. Infantile scoliosis. | | | 0.58 | n/a | 0.83 | Wolf et al, 2009; [view data] | | 654 | Frameshift:
Thr1053Argfs*6
| W748S5
| a psychomotor retardation and muscle hypotonia were observed since 2 months of age, and autistic behaviour was observed during early childhood. At the age of 3 years, the patient was given valproic acid due to episodes of unconsciousness and abnormal EEG pattern and responded suddenly with an acute liver failure. | | | 1.67 | n/a | 3.5 | Kaliszewska et al, 2015; [view data] | | 698 | Frameshift:
Y1210fs1216X
| W748S5
E1143G
| An apparently myogenic torticollis was noticed after a few months of life; at 10 months, he had two episodes of sudden head drop, followed by the onset of psychomotor arrest/ regression, hypotonia, ataxia and focal myoclonus of the right upper limb. In the following weeks, the myoclonus became subcontinuous, and was associated with rapidly progressive, severe generalized hypotonia and weakness requiring ventilatory assistance. Seizures were partially controlled with a combination of topiramate, clobazam and phenylbarbiturate. symmetrical lesions of the basal ganglia, thalami, cerebellar dentate nuclei and left occipital cortical and subcortical regions. abnormal accumulation of lactic acid in the putamen and a reduction of the N-acetyl aspartate. cholestatic jaundice, hypoglycaemia and hypocoagulation. The diagnostic conclusion was Alpers syndrome. | | - | movement disorder (ataxia) | |
| | 0.2 | n/a | 2.5 | Ferrari et al, 2005; [view data] | | 699 | Frameshift:
Y1210fs1216X
| W748S5
E1143G
| disease-free interval in the first 4 months after birth, followed by persistent vomiting, epileptic crises with loss of eye contact, and myoclonus in the upper limbs with secondary generalization and loss of consciousness. Persistent myoclonus in the upper limbs was associated with profound hypotonia and loss of eye contact. cortical atrophy and leukoencephalopathy in the subcortical areas of the frontal lobes. progressive hepatic failure with enlarged liver, hypoalbuminaemia and predominantly cholestatic jaundice led to the death of the child at 8 months of age. | | | 0.3 | n/a | 0.67 | Ferrari et al, 2005; [view data] | | 707 | Nonsense
mutation:
c.3643+2T>C
| E1143G
W748S5
| At 16 months of age, he started a severe status epilepticus. Cerebral MRI showed brain cortical atrophy. he developed intractable epileptic encephalopathy associated with generalized hypotonia and cortical blindness. diffuse hypotonia, lethargy and vomiting. During the two following years, epilepsy was always very active including spasms and myoclonic jerks. progressive hepatic failure. Alpers. | | | 1.33 | n/a | 4.17 | 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: 8
Avg age of onset in displayed cases: 1.3
Std dev in onset in displayed cases: 1.2
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