title: Two novel insulin receptor gene mutations in a patient with Rabson-Mendenhall syndrome: the first Korean case confirmed by biochemical, and molecular evidence.
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.
authors.affiliation: Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
authors.forename: Doosoo
authors.initials: D
authors.lastname: Kim
authors.forename: Sung Yoon
authors.initials: SY
authors.lastname: Cho
authors.forename: Sung-Hee
authors.initials: SH
authors.lastname: Yeau
authors.forename: Sung Won
authors.initials: SW
authors.lastname: Park
authors.forename: Young Bae
authors.initials: YB
authors.lastname: Sohn
authors.forename: Min-Jung
authors.initials: MJ
authors.lastname: Kwon
authors.forename: Ji-Yeon
authors.initials: JY
authors.lastname: Kim
authors.forename: Chang-Seok
authors.initials: CS
authors.lastname: Ki
authors.forename: Dong-Kyu
authors.initials: DK
authors.lastname: Jin
mesh_terms: D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D001786:Blood Glucose / Q000032:analysis; D002096:C-Peptide / Q000097:blood; D018389:Codon, Nonsense; D056731:Donohue Syndrome / Q000188:drug therapy / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D007004:Hypoglycemic Agents / Q000627:therapeutic use; D007223:Infant; D007328:Insulin / Q000097:blood; D008297:Male; D020125:Mutation, Missense; D011972:Receptor, Insulin / Q000235:genetics*; D056910:Republic of Korea; D017422:Sequence Analysis, DNA
chemical_list: D001786:Blood Glucose; D002096:C-Peptide; D018389:Codon, Nonsense; D007004:Hypoglycemic Agents; D007328:Insulin; D011972:Receptor, Insulin