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Two novel insulin receptor gene mutations in a patient with rabson-mendenhall syndrome: The first Korean case confirmed by biochemical, and molecular evidence

Title
Two novel insulin receptor gene mutations in a patient with rabson-mendenhall syndrome: The first Korean case confirmed by biochemical, and molecular evidence
Authors
Kim D.Cho S.Y.Yeau S.-H.Park S.W.Sohn Y.B.Kwon M.-J.Kim J.-Y.Ki C.-S.Jin D.-K.
Ewha Authors
여성희
SCOPUS Author ID
여성희scopus
Issue Date
2012
Journal Title
Journal of Korean Medical Science
ISSN
1011-8934JCR Link
Citation
vol. 27, no. 5, pp. 565 - 568
Indexed
SCI; SCIE; SCOPUS; KCI WOS scopus
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. © 2012 The Korean Academy of Medical Sciences.
DOI
10.3346/jkms.2012.27.5.565
Appears in Collections:
사범대학 > 과학교육과 > Journal papers
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