Table 2 Summary of the medical histories of members of family A with p.R722H mutation in POLG1.
From: POLG1 p.R722H mutation associated with multiple mtDNA deletions and a neurological phenotype
Family member code | Clinical manifestation |
|---|---|
p.R722H homozygotes | |
Patient A1 | Severe dementia, sensorineural hearing impairment, diabetes mellitus, PEO, dysphagia, neuropathic pain in the legs |
Patient A2 | Moderate dementia, sensorineural hearing impairment, occasional headaches, cataract |
Patient A3 | Mild dementia, sensorineural hearing impairment, diabetes mellitus, hypertension, coronary heart disease, areflexia due to diabetic neuropathy |
Carriers of p.R722H | |
A7 | Diabetes mellitus, hypothyreosis, cerebral infarction, hypertension, hypercholesterolemia, learning difficulties |
A8 | Transient hypertension, benign cardiac arrhythmias, fertility problems |
A9 | Hypothyreosis, gestational diabetes mellitus |
A10 | Mental retardation |
A11 | Premature puberty, short stature, fertility problems, gestational diabetes mellitus |
A12 | Tinnitus, benign cardiac arrhythmias |
A15 | Cataract, balance disturbances, retinal rupture, tinnitus, unilateral deafness |
A16 | Coronary heart disease, delayed puberty, sensorineural hearing loss |
A19 | Delayed puberty, hypogonadism, transient vertigo, visual field defect |
A20 | Healthy |
Deceased individuals of unknown mutation status | |
A4 | Dementia, coronary heart disease, diabetes mellitus, rheumatoid arthritis, operated for colon cancer |
A5 | Diabetes mellitus, bradycardia, sensorineural hearing loss, coronary heart disease |
A6 | Psychiatric problems, sudden death from intracerebral haemorrhage |
A21 | Impaired memory, sudden death from cerebral infarct |
A22 | Dementia, hemiplegia progressing to diplegia, diabetes mellitus |
Non-carriers | |
A13 | Hypertension, distal sensory impairment in the hand |
A14 | Hypertension |
A17 | Unilateral hearing loss due to chronic secretory otitis, benign cardiac arrhythmia |
A18 | Healthy |