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Table 3 Icelandic individuals homozygous for p.Ala371Thr in UBA5

From: Compound heterozygous mutations in UBA5 causing early-onset epileptic encephalopathy in two sisters

Individual Gender Year of birth Number of offspring Main reported phenotypes
A Female 1934- 3 Coronary artery disease
Essential hypertension
B Male 1946- 0 Myocardial infarction
C Female 1940- 6 Coronary artery disease
Ulcerative colitis
  1. For the three p.Ala371Thr homozygous individuals detected in the Icelandic reference cohort we show gender, year of birth, number of offspring and main clinical phenotypes. The phenotypes were obtained from the National University Hospital of Iceland’s registry. All three individuals are still alive and two of them have children, none of them has a reported neurological condition. Individuals B and C are siblings