Report | Country of origin | No of cases | Age | Consanguinity | Genotype | Symptoms | ||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Visceral | Neurological | Cardiac | Eye | Other | ||||||||||||||||
Chabas et al 5 | Spain | 3 sibs | 10 | No | D409H/ | Mild | Abnormal saccades, one had tonic/clonic seizures | Calcifications of aortic and mitral valves and ascending aorta | Corneal opacities | NA | ||||||||||
16 | D409H | Moderate | ||||||||||||||||||
17 | ||||||||||||||||||||
Abrahamov et al 4 | Israel | 12 pts in 3 families | 2–20 | Yes | D409H/ | Mild | Absent saccades, mild dilatation of lateral ventricles | Calcification of valves | Corneal opacities | NA | ||||||||||
D409H | ||||||||||||||||||||
Sharrattet al 9 | Canada | 1 | 12 | Yes | NA | Moderate | NA | Calcifications of mitral and aortic valves and left atrium | NA | NA | ||||||||||
Saraclar et al 8 | Turkey | 2 sibs | 15 | Yes | NA | Mild | NA | Mitral and aortic valve involvement | NA | NA | ||||||||||
9 | ||||||||||||||||||||
Uyamaet al 2 3 | Japan | 3 sibs | 42 | No | D409H/ | Mild | Abnormal saccadic eye movements, leptomeningeal fibrosis | Mitral and aortic valve calcification, intimal fibrosis of ascending aorta | Corneal opacities | Azoospermia, progressive hearing loss, deformed toes, hyperextensible skin, hernias | ||||||||||
35 | D409H | |||||||||||||||||||
27 | ||||||||||||||||||||
Erduranet al 7 | Turkey | 1 | 12 | Yes | NA | Mild | Communicating hydrocephalus, choreoathetoid movements of head | Left ventricular hypertrophy | Corneal opacities | Clinodactyly, sensorineural hearing loss | ||||||||||
Beutler et al 10 | Britain/ | 1 | 18 | Yes | D409H/ | Moderate | Hydrocephalus, oculomotor apraxia | “Cardiac disease” | NA | NA | ||||||||||
Germany | D409H | |||||||||||||||||||
This report and Wilsonet al 1 | USA | 1 | 6 | No | D409H/ | Severe | Absent saccades, mild communicating hydrocephalus | Ventricular hypertrophy, aortic and coronary artery intimal fibrosis | NA | NA | ||||||||||
recombinant allele | ||||||||||||||||||||
Castaet al 11 | USA | 1 | 15 | NA | NA | Mild | NA | Calcification of ascending aorta, aortic and mitral valves | Corneal deposits | NA |
NA - not available.