Novel mutation in the ceruloplasmin gene causing a cognitive and movement disorder with diabetes mellitus.
In a Chinese woman who had diabetes mellitus, undetectable ceruloplasmin, hand tremor, neck dystonia, and cognitive disturbances, genetic analyses revealed a novel homozygous mutation (848G > C or W283S) in exon 5 in the ceruloplasmin gene. Another member with a milder phenotype was also affected by this mutation. The healthy sister was heterozygous at the same position. Aceruloplasminemia has not yet been reported in China. This case suggests that increased awareness should be paid to this disorder in the presence of the typical symptoms.
Shang
Hui-Fang
HF
Department of Neurology, West China Hospital, Sichuan University, Chengdu, Sichuan, China. hfshang@yahoo.com
Jiang
Xiao-Feng
XF
Burgunder
Jean-Marc
JM
Chen
Qin
Q
Zhou
Dong
D
D002570:Ceruloplasmin / Q000235:genetics*; D003072:Cognition Disorders / Q000209:etiology / Q000235:genetics* / Q000473:pathology; D004252:DNA Mutational Analysis / Q000379:methods; D048909:Diabetes Complications / Q000150:complications / Q000235:genetics; D005091:Exons / Q000235:genetics; D005260:Female; D006720:Homozygote; D006801:Humans; D008279:Magnetic Resonance Imaging / Q000379:methods; D008875:Middle Aged; D009069:Movement Disorders / Q000209:etiology / Q000235:genetics* / Q000473:pathology; D009154:Mutation; D012694:Serine / Q000235:genetics; D014364:Tryptophan / Q000235:genetics
D012694:Serine; D014364:Tryptophan; D002570:Ceruloplasmin