Clinical characteristics in two patients with partial lipodystrophy and Type A insulin resistance syndrome due to a novel heterozygous missense mutation in the insulin receptor gene

2019 ◽  
Vol 152 ◽  
pp. 79-87 ◽  
Author(s):  
Masanori Iwanishi ◽  
Toru Kusakabe ◽  
Choka Azuma ◽  
Yuji Tezuka ◽  
Yukako Yamamoto ◽  
...  
Keyword(s):  
Insulin Resistance ◽  
Insulin Receptor ◽  
Missense Mutation ◽  
Clinical Characteristics ◽  
Receptor Gene ◽  
Insulin Resistance Syndrome ◽  
Insulin Receptor Gene ◽  
Partial Lipodystrophy ◽  
Heterozygous Missense Mutation ◽  
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.

scholarly journals Two Novel Variants and One Previously Reported Variant in the Insulin Receptor Gene in Two Cases with Severe Insulin Resistance Syndrome

2020 ◽  
Vol 11 (2) ◽  
pp. 90-96
Author(s):  
Aydilek Dagdeviren Cakir ◽  
Said Saidov ◽  
Hande Turan ◽  
Serdar Ceylaner ◽  
Yavuz Özer ◽  
...  
Keyword(s):  
Insulin Resistance ◽  
Insulin Receptor ◽  
Receptor Gene ◽  
Insulin Resistance Syndrome ◽  
Insulin Receptor Gene ◽  
Severe Insulin Resistance ◽  
Novel Variants

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

A novel heterozygous mutation in the insulin receptor gene presenting with type A severe insulin resistance syndrome

2020 ◽  
Vol 33 (6) ◽  
pp. 809-812
Author(s):  
Arameh S. Aghababaie ◽  
Martha Ford-Adams ◽  
Charles R. Buchanan ◽  
Ved B. Arya ◽  
Kevin Colclough ◽  
...  
Keyword(s):  
Insulin Resistance ◽  
Insulin Receptor ◽  
Receptor Gene ◽  
Insulin Resistance Syndrome ◽  
Type A ◽  
Heterozygous Mutation ◽  
Insulin Receptor Gene ◽  
Severe Insulin Resistance ◽  
Targeted Next Generation Sequencing ◽  
Insulin Requirements

AbstractBackgroundInherited severe insulin resistance syndromes (SIRS) are rare and can be caused by mutations in the insulin receptor gene (INSR).Case presentationA 12-year-old Jamaican girl with a BMI of 24.4 kg/m2 presented with polyuria and polydipsia. A diagnosis of T1DM was made in view of hyperglycaemia (18 mmol/l), and elevated Hba1C (9.9%), and insulin therapy was initiated. Over the next 2 years, she developed hirsutism and acanthosis nigricans, and had minimal insulin requirements with frequent post-prandial hypoglycaemia. In view of this, and her strong family history suggestive of a dominantly inherited type of diabetes, the diagnosis was revisited. Targeted next-generation sequencing (NGS) of the patient’s monogenic diabetes genes was performed.What is new?NGS revealed a novel heterozygous missense INSR variant, NM_000208.3:c.3471T>G, p.(His1157Gln), confirming a diagnosis of Type A SIRS.ConclusionsType A SIRS can be difficult to differentially diagnose due to the variable phenotype. Features of insulin resistance may be absent at initial presentation and may develop later during pubertal progress. Awareness of the clinical features and comprehensive genetic testing are essential to identify the condition.

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