terminal 15q26.2->qter Deletion

Target gene

 IGF1R

• Mutations in the IGF1R gene result in intrauterine growth retardation and postnatal growth failure.
• The heterozygous mutation of IGF1R reduced IGF1R expression and represents haploinsufficiency of the IGF1R gene.
• Mutation in the IGF1R gene leads to abnormalities in the function of IGF1R and also retards intrauterine and subsequent growth in humans.

References

 Clinical and Functional Characteristics of a Novel Heterozygous Mutation of the IGF1R Gene and IGF1R Haploinsufficiency due to Terminal 15q26.2->qter Deletion in Patients with Intrauterine Growth Retardation and Postnatal Catch-Up Growth Failure. Choi JH, Kang M, Kim GH, Hong M, Jin HY, Lee BH, Park JY, Lee SM, Seo EJ, Yoo HW. J Clin Endocrinol Metab. 2010 Oct 20. PMID: 20962017