RT Journal Article
SR Electronic
T1 'Durate variant with clinical signs' has alpha1 -antitrypsin genotype ZZ.
JF Journal of Medical Genetics
JO J Med Genet
FD BMJ Publishing Group Ltd
SP 46
OP 48
DO 10.1136/jmg.13.1.46
VO 13
IS 1
A1 Weitkamp, L R
A1 Sayre, J W
A1 Schwartz, R H
A1 Doherty, R
A1 Khera, S A
YR 1976
UL http://jmg.bmj.com/content/13/1/46.abstract
AB A patient with neonatal jaundice and cirrhosis who was previously reported homozygous for the Durate variant of galactose-1-phosphate uridyl transferase has the ZZ genotype for alpha1-antitrypsin. A sister of the patient, also with ZZ genotype, is less severly affected with liver disease and is a heterozygote for the Durate variant. Since a number of patients with ZZ genotype of alpha1-antitrypsin have been previously reported to have liver disease, the latter genotype is the more probable explanation for the patients' clinical state. A question is raised, however, whether the Duarte variant may be specifically associated with the development of liver disease in ZZ individuals.