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Article Open Access

Roles of insulin‑like growth factor 1 receptor in growth regulation in 15q26 deletion and duplication syndrome

  • Authors:
    • Kexin Yu
    • Xin Xu
    • Bo Liu
    • Ke Zhang
    • Yulan Lu
    • Xinran Dong
    • Laishuan Wang
    • Guoqiang Cheng
    • Jin Wang
    • Wei Lu
    • Bingbing Wu
    • Huijun Wang
    • Feihong Luo
    • Wenhao Zhou
    • Lin Yang
  • View Affiliations / Copyright

    Affiliations: Department of Endocrinology and Inherited Metabolic Diseases, Children's Hospital of Fudan University, Shanghai 201102, P.R. China, Division of Neonatology, Children's Hospital of Fudan University (Xiamen Branch), Xiamen Children's Hospital, Xiamen, Fujian 361006, P.R. China, Center for Molecular Medicine of Children's Hospital of Fudan University, Shanghai 201102, P.R. China, Division of Neonatology, Children's Hospital of Fudan University, Shanghai 201102, P.R. China, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, Guangdong 510623, P.R. China
    Copyright: © Yu et al. This is an open access article distributed under the terms of Creative Commons Attribution License.
  • Article Number: 78
    |
    Published online on: April 28, 2026
       https://doi.org/10.3892/br.2026.2151
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Abstract

The 15q26 deletion and duplication syndromes are rare chromosome diseases with growth deviation and structural anomalies such as facial abnormality, cardiac malformation and hand/foot/skeleton malformations. Insulin‑like growth factor 1 receptor (IGF1R), located on chromosome 15q26, is key for pre‑ and postnatal growth. The present study aimed to determine whether IGF1R serves as a key factor in growth regulation in 15q26 deletion and duplication syndromes. Patients with 15q26 deletions and duplications enrolled in the China Neonatal Genomes Project (CNGP) were recruited. A systematic review of 15q26 deletion and duplication cases was performed, followed by meta‑analysis to evaluate the roles of IGF1R and three other genes [myocyte enhancer factor 2A (MEF2A), leucine‑rich repeat kinase 1 (LRRK1) and nuclear receptor subfamily 2 group F member 2] involved in growth regulation. A total of 10 eligible patients from the CNGP, including seven with deletions and three with duplications, were identified. The literature search and screening yielded 78 patients with 15q26 deletions and 10 with 15q26 duplications. Clinical features observed in >70% of the patients in the deletion group were facial abnormalities, developmental delay, short stature and hand/foot/skeleton malformations, whereas the duplication group exhibited facial abnormality, hand/foot/skeleton malformation and speech development delay. In 15q26 deletion, three candidate genes were associated with an increased risk of short stature: IGF1R [odds ratio (OR): 8.43; 95% confidence interval (CI): 2.22‑32.00], LRRK1 (OR: 100.00; 95% CI: 11.86‑843.23) and MEF2A (OR: 32.21; 95% CI: 3.81‑272.47). In 15q26 duplication, none of the candidate genes significantly affected tall stature. Using meta‑analysis, the present study revealed that IGF1R is not the only key gene responsible for growth abnormalities in 15q26 deletion and duplication syndromes.
View Figures

Figure 1

Flow chart of the literature
screening and reviewing procedure using PubMed and case selection
process for meta-analysis. CNV, copy number variation.

Figure 2

Chromosome locations of deletion and
duplication cases with specific positions in UCSC genome browser
assembly (GRCh37/hg19). Orange, candidate genes; dark blue,
duplication cases with tall stature; light blue, duplication cases
without tall stature; dark green, deletion cases with short
stature; light green, deletion cases without short stature. UCSC,
University of California, Santa Cruz.

Figure 3

Meta-analysis of the roles of
candidate genes in 15q26 deletion syndrome. IGF1R, insulin-like
growth factor 1 receptor; LRRK1, leucine-rich repeat kinase 1;
MEF2A, myocyte enhancer factor 2A; NR2F2, nuclear receptor
subfamily 2 group F member 2; M-H, Mantel-Haenszel.

Figure 4

Meta-analysis of the roles of
candidate genes in 15q26 duplication syndrome. IGF1R, insulin-like
growth factor 1 receptor; LRRK1, leucine-rich repeat kinase 1;
MEF2A, myocyte enhancer factor 2A; NR2F2, nuclear receptor
subfamily 2 group F member 2; M-H, Mantel-Haenszel.
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Copy and paste a formatted citation
Spandidos Publications style
Yu K, Xu X, Liu B, Zhang K, Lu Y, Dong X, Wang L, Cheng G, Wang J, Lu W, Lu W, et al: Roles of insulin‑like growth factor 1 receptor in growth regulation in 15q26 deletion and duplication syndrome. Biomed Rep 24: 78, 2026.
APA
Yu, K., Xu, X., Liu, B., Zhang, K., Lu, Y., Dong, X. ... Yang, L. (2026). Roles of insulin‑like growth factor 1 receptor in growth regulation in 15q26 deletion and duplication syndrome. Biomedical Reports, 24, 78. https://doi.org/10.3892/br.2026.2151
MLA
Yu, K., Xu, X., Liu, B., Zhang, K., Lu, Y., Dong, X., Wang, L., Cheng, G., Wang, J., Lu, W., Wu, B., Wang, H., Luo, F., Zhou, W., Yang, L."Roles of insulin‑like growth factor 1 receptor in growth regulation in 15q26 deletion and duplication syndrome". Biomedical Reports 24.6 (2026): 78.
Chicago
Yu, K., Xu, X., Liu, B., Zhang, K., Lu, Y., Dong, X., Wang, L., Cheng, G., Wang, J., Lu, W., Wu, B., Wang, H., Luo, F., Zhou, W., Yang, L."Roles of insulin‑like growth factor 1 receptor in growth regulation in 15q26 deletion and duplication syndrome". Biomedical Reports 24, no. 6 (2026): 78. https://doi.org/10.3892/br.2026.2151
Copy and paste a formatted citation
x
Spandidos Publications style
Yu K, Xu X, Liu B, Zhang K, Lu Y, Dong X, Wang L, Cheng G, Wang J, Lu W, Lu W, et al: Roles of insulin‑like growth factor 1 receptor in growth regulation in 15q26 deletion and duplication syndrome. Biomed Rep 24: 78, 2026.
APA
Yu, K., Xu, X., Liu, B., Zhang, K., Lu, Y., Dong, X. ... Yang, L. (2026). Roles of insulin‑like growth factor 1 receptor in growth regulation in 15q26 deletion and duplication syndrome. Biomedical Reports, 24, 78. https://doi.org/10.3892/br.2026.2151
MLA
Yu, K., Xu, X., Liu, B., Zhang, K., Lu, Y., Dong, X., Wang, L., Cheng, G., Wang, J., Lu, W., Wu, B., Wang, H., Luo, F., Zhou, W., Yang, L."Roles of insulin‑like growth factor 1 receptor in growth regulation in 15q26 deletion and duplication syndrome". Biomedical Reports 24.6 (2026): 78.
Chicago
Yu, K., Xu, X., Liu, B., Zhang, K., Lu, Y., Dong, X., Wang, L., Cheng, G., Wang, J., Lu, W., Wu, B., Wang, H., Luo, F., Zhou, W., Yang, L."Roles of insulin‑like growth factor 1 receptor in growth regulation in 15q26 deletion and duplication syndrome". Biomedical Reports 24, no. 6 (2026): 78. https://doi.org/10.3892/br.2026.2151
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