Two related cases of type A insulin resistance with compound heterozygous mutations of the insulin receptor gene

2009 ◽  
Vol 83 (3) ◽  
pp. e75-e77 ◽  
Author(s):  
Wataru Ogawa ◽  
Kazuya Iwamoto ◽  
Hiroyuki Mori ◽  
Mitsuru Hashiramoto ◽  
Kazuaki Miyake ◽  
...  
Keyword(s):  
Insulin Resistance ◽  
Insulin Receptor ◽  
Receptor Gene ◽  
Type A ◽  
Compound Heterozygous ◽  
Insulin Receptor Gene ◽  
Compound Heterozygous Mutations ◽  
Type A Insulin Resistance

scholarly journals A New Mutation of the INSR Gene in a 13-Year-Old Girl with Severe Insulin Resistance Syndrome in China

2021 ◽  
Vol 2021 ◽  
pp. 1-4
Author(s):  
Jing Jin ◽  
Xinxin Liang ◽  
Jie Wei ◽  
Lingling Xu
Keyword(s):  
Insulin Resistance ◽  
Insulin Receptor ◽  
Acanthosis Nigricans ◽  
Polycystic Ovary ◽  
Receptor Gene ◽  
Insulin Resistance Syndrome ◽  
Type A ◽  
Insulin Receptor Gene ◽  
Severe Insulin Resistance ◽  
Type A Insulin Resistance

Background. Mutations in insulin receptor genes can cause severe insulin resistance syndrome. Compared with Rabson-Mendenhall Syndrome and Donohue’s Syndrome, type A insulin resistance syndrome is generally not serious. The main manifestations in woman with type A insulin resistance syndrome are hyperinsulinemia, insulin resistance, acanthosis nigricans, hyperandrogenism, and polycystic ovary. Case Presentation. A 13-year-old girl (Han nationality) visited the hospital due to hairiness and acanthosis nigricans. Further examination revealed severe hyperinsulinemia, insulin resistance, elevated blood glucose, hyperandrogenism, and polycystic ovary. Analysis of the insulin receptor gene by sequencing showed the presence of a nucleotide change in intron 7 (c. 1610+1G > A). The mutation was a splicing mutation, which can obviously affect the mRNA splicing of the insulin receptor and cause its function loss. The patient was finally diagnosed with type A insulin resistance syndrome. After 2 months of metformin treatment, the patient had spontaneous menstrual cramps and significantly improved acanthosis nigricans and sex hormones. Conclusion. We report for the first time a new splicing mutation on the insulin receptor gene at the 7th intron (c.1610+1G > A), which leads to type A insulin resistance syndrome. In clinically suspected patients with polycystic ovary syndrome, if there are extremely high blood levels of insulin in the blood, genetic testing should be performed to detect insulin receptor gene mutation of type A insulin resistance syndrome.

A case of type A insulin resistance associated with heterozygous Asn462Ser mutation of the insulin receptor gene

2012 ◽  
Vol 3 (4) ◽  
pp. 239-243 ◽  
Author(s):  
Naoko Hashimoto ◽  
Norihide Yokoi ◽  
Hisako Komada ◽  
Tomokazu Matsuda ◽  
Yushi Hirota ◽  
...  
Keyword(s):  
Insulin Resistance ◽  
Insulin Receptor ◽  
Receptor Gene ◽  
Type A ◽  
Insulin Receptor Gene ◽  
Type A Insulin Resistance

Prevalence of Mutations in the Insulin Receptor Gene in Subjects With Features of the Type A Syndrome of Insulin Resistance

Diabetes ◽  
1994 ◽  
Vol 43 (2) ◽  
pp. 247-255 ◽  
Author(s):  
D. E. Moller ◽  
O. Cohen ◽  
Y. Yamaguchi ◽  
R. Assiz ◽  
F. Grigorescu ◽  
...  
Keyword(s):  
Insulin Resistance ◽  
Insulin Receptor ◽  
Receptor Gene ◽  
Type A ◽  
Insulin Receptor Gene

scholarly journals Leprechaunism (Donohue syndrome): A case bearing novel compound heterozygous mutations in the insulin receptor gene

2013 ◽  
Vol 60 (1) ◽  
pp. 107-112 ◽  
Author(s):  
Yuki Kawashima ◽  
Rei Nishimura ◽  
Akari Utsunomiya ◽  
Reiko Kagawa ◽  
Hiroaki Funata ◽  
...  
Keyword(s):  
Insulin Receptor ◽  
Receptor Gene ◽  
Compound Heterozygous ◽  
Insulin Receptor Gene ◽  
Donohue Syndrome ◽  
Compound Heterozygous Mutations
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