Clinical and genetic analysis of the insulin receptor gene in a Chinese patient with extreme insulin resistance.
Several types of mutations in insulin receptor gene have been identified in patients with type A insulin resistance. A 21-year old girl was diagnosed with diabetic retinopathy and cataract after 6 years of uncontrolled diabetes. Three nucleotide substitution mutations were detected, which may be associated with the patient's extreme insulin resistance.
Yang
Guo-Qing
GQ
Department of Endocrinology, Chinese People's Liberation Army General Hospital, No 28th Fu Xing Road, Beijing 100853, China.
Wang
Bao-An
BA
Zhao
Wen-Rui
WR
Gu
Wei-Jun
WJ
Lui
Zhao-Hui
ZH
Dou
Jing-Tao
JT
Mu
Yi-Ming
YM
Lu
Ju-Ming
JM
D000328:Adult; D044466:Asian People; D002386:Cataract / Q000209:etiology / Q000235:genetics; D048909:Diabetes Complications / Q000235:genetics; D003930:Diabetic Retinopathy / Q000209:etiology / Q000235:genetics; D005260:Female; D006801:Humans; D007333:Insulin Resistance / Q000235:genetics* / Q000502:physiology; D009154:Mutation; D011972:Receptor, Insulin / Q000235:genetics*; D055815:Young Adult
D011972:Receptor, Insulin