Two novel insulin receptor gene mutations in a patient with Rabson-Mendenhall syndrome: the first Korean case confirmed by biochemical, and molecular evidence.

Journal of Korean Medical Science
Doosoo KimDong-Kyu Jin

Abstract

Rabson-Mendenhall syndrome (RMS) is a rare syndrome manifested by extreme insulin resistance with hyperinsulinemia, acanthosis nigricans, tooth dysplasia and growth retardation. Our patient was first noted at the age of 8 months due to pigmentations on skin-folded areas. Initial laboratory tests showed normal fasting glucose (69 mg/dL). Fasting insulin level was severely elevated, up to 554.6 µIU/mL, and c-peptide level was increased, up to 13.81 ng/mL. However, hemoglobin A1c was within normal range (4.8%). He is now 11 yr old. His growth development followed the 5-10th percentile and oral hypoglycemic agents are being administered. The last laboratory results showed insulin 364.1 µIU/mL, C-peptide 4.30 ng/mL, and hemoglobin A1c 7.6%. The boy was a compound heterozygote for the c.90C > A and c.712G > A mutations of the insulin receptor gene, INSR, which are nonsense and missense mutations. In summary, we report the first Korean case of RMS, which was confirmed by two novel mutations of the INSR.

References

Jul 1, 1990·The Journal of Clinical Investigation·T KadowakiS I Taylor
May 25, 2002·Human Molecular Genetics·Nicola LongoDaniel Giannella-Neto
Sep 13, 2003·The Journal of Clinical Endocrinology and Metabolism·J Antonie MaassenGerard C M van der Zon

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Citations

Jul 18, 2014·Animal : an International Journal of Animal Bioscience·C T MeiraM D S da Mota
Aug 12, 2015·Diabetic Medicine : a Journal of the British Diabetic Association·D CarmodyS A W Greeley
Aug 24, 2013·The Journal of Clinical Endocrinology and Metabolism·Rebecca J BrownPhillip Gorden
May 16, 2019·Neurology India·Pritinanda MishraSusama Patra
Nov 5, 2014·Intractable & Rare Diseases Research·Sung Yoon ChoDong-Kyu Jin

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Methods Mentioned

BETA
biopsy

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