Hereditary hyper-ACE-emia due to the Pro1199Leu mutation of somatic ACE as a potential pitfall in diagnosis: a first family outside Europe.
Elevated plasma levels of angiotensin converting enzyme (ACE) are associated with granulomatous diseases. However, several families of autosomal dominant hyper-ACE-emia without disease association have already been reported. Recently, the ACE mutation c.3705C>T (Pro1199Leu) was identified as the genetic correlate in European cases of asymptomatic autosomal dominant hyper-ACE-emia. Here, we describe a first family outside Europe with asymptomatic autosomal-dominant hyper-ACE-emia due to the ACE Pro1199Leu mutation. Benign autosomal-dominant hyper-ACE-emia should be considered for differential diagnosis of elevated ACE levels worldwide.
Semmler
Alexander
A
Department of Neurology, University Hospital Bonn, Bonn, Germany.
Stein
Robert W
RW
Caplan
Luis
L
Danilov
Sergei M
SM
Klockgether
Thomas
T
Linnebank
Michael
M
D003596:Cytosine / Q000737:chemistry; D005060:Europe; D005260:Female; D020022:Genetic Predisposition to Disease; D006099:Granuloma / Q000235:genetics* / Q000473:pathology; D006801:Humans; D007930:Leucine / Q000235:genetics*; D008297:Male; D007703:Peptidyl-Dipeptidase A / Q000097:blood / Q000235:genetics*; D017354:Point Mutation; D011392:Proline / Q000235:genetics*; D013941:Thymine / Q000737:chemistry
D003596:Cytosine; D011392:Proline; D007703:Peptidyl-Dipeptidase A; D007930:Leucine; D013941:Thymine