The heterozygous LMNA mutation p.R471G causes a variable phenotype with features of two types of familial partial lipodystrophy.
We report on a novel LMNA mutation (p.R471G) in a proband affected by a syndrome comprising partial lipodystrophy, insulin-resistant diabetes, acanthosis nigricans, liver steatosis, muscle weakness, and contractures. This phenotype has features of both types 1 and 2 familial partial lipodystrophy. The sister and father of the proband had the same mutation. The sister was more mildly affected and the father was apparently unaffected, demonstrating variable expressivity and reduced penetrance for this mutation.
Muschke
Petra
P
Institute of Human Genetics, Otto von Guericke University, Magdeburg, Germany.
Kölsch
Uwe
U
Jakubiczka
Sibylle
S
Wieland
Ilse
I
Brune
Thomas
T
Wieacker
Peter
P
D000052:Acanthosis Nigricans / Q000235:genetics; D000293:Adolescent; D003286:Contracture / Q000235:genetics; D003920:Diabetes Mellitus / Q000235:genetics; D005234:Fatty Liver / Q000235:genetics; D005260:Female; D006579:Heterozygote; D006801:Humans; D007333:Insulin Resistance; D034904:Lamin Type A / Q000235:genetics*; D008060:Lipodystrophy / Q000235:genetics*; D008297:Male; D018908:Muscle Weakness / Q000235:genetics; D009154:Mutation; D010375:Pedigree; D010641:Phenotype
C494847:LMNA protein, human; D034904:Lamin Type A