Identification of mtDNA mutation in a pedigree with gestational diabetes, deafness, Wolff-Parkinson-White syndrome and placenta accreta.
Mitochondrial DNA (mtDNA) defects are associated with a number of human disorders. Although many occur sporadically, maternal transmission is the hallmark of diseases due to mtDNA point mutations. The same mutation may manifest strikingly different phenotypes; for example, the A to G substitution at np 3243 was first reported in patients with mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (the MELAS syndrome), but is also found in patients with diabetes and deafness. Here we present a case of gestational diabetes, deafness, premature greying, placenta accreta and Wolff-Parkinson-White (WPW) syndrome associated with a mtDNA mutation. Although this is the first report of such an association, study of 27 other patients with WPW syndrome failed to confirm that this mtDNA mutation is a common cause of such pre-excitation disorders.
Aggarwal
P
P
Department of Medicine, University of Wales College of Medicine, Cardiff, UK.
Gill-Randall
R
R
Wheatley
T
T
Buchalter
M B
MB
Metcalfe
J
J
Alcolado
J C
JC
D000328:Adult; D004272:DNA, Mitochondrial / Q000235:genetics*; D003638:Deafness / Q000150:complications / Q000235:genetics*; D016640:Diabetes, Gestational / Q000150:complications / Q000235:genetics*; D005260:Female; D006801:Humans; D010375:Pedigree; D010921:Placenta Accreta / Q000150:complications / Q000235:genetics*; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D014927:Wolff-Parkinson-White Syndrome / Q000150:complications / Q000235:genetics*
D004272:DNA, Mitochondrial