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Journal of Genetics

, 98:16 | Cite as

Novel mutation of type-1 insulin-like growth factor receptor (IGF-1R) gene in a severe short stature pedigree identified by targeted next-generation sequencing

  • Yu YangEmail author
  • Hui Huang
  • Ka Chen
  • Li Yang
  • Li-ling Xie
  • Ting Xiong
  • Xian Wu
Research Note
  • 37 Downloads

Abstract

Insulin-like growth factor receptor (IGF-1R) deficiency is a rare form of short stature, and is difficult to clinically diagnose. Targeted next-generation sequencing (NGS) allows for the rapid and inexpensive assessment of short stature. We identified mutations in the pedigree of a Chinese boy with severe short stature using targeted NGS; we then assessed the clinical characteristics and evaluated the efficacy of growth hormone therapy. NGS analysis revealed a novel heterozygous missense mutation in exon3 (\(\hbox {c.926C}{>}\hbox {T}\), p.S309L) of the type-I IGF-1R gene in the proband, which was inherited from the mother. The proband, mother and grandfather suffered from severe growth failure. After recombinant human growth hormone therapy, the patient’s growth rate increased. The novel missense mutation in IGF-1R (\(\hbox {c.926C}>\hbox {T}\), p.S309L) is associated with severe short stature in Chinese individuals. Targeted NGS may enable efficient diagnosis and genetic consultation of children with short stature.

Keywords

short stature IGF1R mutation targeted NGS 

Notes

Acknowledgements

This work was supported in part by the National Key Research and Development Program of China (2016YFC1305301) and the National Natural Science Foundation of China (No. 81460501).

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Copyright information

© Indian Academy of Sciences 2019

Authors and Affiliations

  • Yu Yang
    • 1
    • 3
    Email author
  • Hui Huang
    • 2
    • 3
  • Ka Chen
    • 2
    • 3
  • Li Yang
    • 1
  • Li-ling Xie
    • 1
    • 3
  • Ting Xiong
    • 1
    • 3
  • Xian Wu
    • 1
    • 3
  1. 1.Department of Endocrinology, Metabolism, and GeneticsJiangxi Provincial Children’s HospitalNanchangPeople’s Republic of China
  2. 2.Central LaboratoryJiangxi Provincial Children’s HospitalNanchangPeople’s Republic of China
  3. 3.Affiliated Children’s Hospital of Nanchang universityNanchang ShiPeople’s Republic of China

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