[Leprechaunism: an inherited insulin resistance syndrome caused by the defect of insulin receptor].

Abstract

OBJECTIVE:

Leprechaunism is an inherited insulin resistance syndrome, caused by homozygous or compound-heterozygous mutations in the insulin receptor gene (INSR). Clinical and molecular genetic research was carried out in one 17-year old girl with leprechaunism and her family members.

METHODS:

History and laboratory tests were routinely taken. DNA samples were obtained from the proband and 4 of the family members. PCR was done on all exons of INSR and the products of PCR were sequenced directly.

RESULTS:

The proband had the following features: apparent cessation of growth, elfin-like face, emaciation, hirsutism and acanthosis nigricans. She had hyperglycemia (fasting blood glucose 15.8 mmol/L; glycosylated forms of hemoglobin 12%) and it was resistant to the treatment of insulin. She was found to have W659R mutation at 9 exon and V1054M mutation at 17 exon of INSR as heterozygotes. This compound mutation is a newly found type. For her father there was only V1054M mutation and her mother only W659R mutation. No mutation was identified in her sister.

CONCLUSION:

The patient was diagnosed as leprechaunism according to her clinical presentations and biochemical examinations. The new transition mutation W659R at 9 exon and V1054M at 17 exon in INSR is the pathologic cause in this patient with leprechaunism.

• Authors: Lei Jiang, Chao Liu, Wei-qing Wang, Lei Ye, Na Zhu, Wei-wei Zhou, Ting-wei Su, Xiao-ying Li, Guang Ning
• Journal: Zhonghua nei ke za zhi (Zhonghua Nei Ke Za Zhi) Vol. 45 Issue 9 Pg. 730-3 (Sep 2006) ISSN: 0578-1426 [Print] China
• PMID: 17166446 (Publication Type: Case Reports, English Abstract, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Antigens, CD
• INSR protein, human
• Receptor, Insulin

Topics

• Abnormalities, Multiple (genetics, metabolism)
• Adolescent
• Antigens, CD (genetics)
• Exons
• Female
• Genes
• Humans
• Insulin Resistance (genetics)
• Mutation
• Receptor, Insulin (genetics)
• Syndrome