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terminal 15q26.2->qter Deletion - Humpath.com - Human pathology

Home > D. General pathology > Genetic and developmental anomalies > Chromosomal diseases > Microdeletion syndromes > terminal 15q26.2->qter Deletion

terminal 15q26.2->qter Deletion

Saturday 30 October 2010

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