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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

Osteoarthritis

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
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BMC Medical Genetics

ISSN: 1471-2350

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