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Clinical and genetic characteristics of CEL-MODY (MODY8): a literature review and screening in Chinese individuals diagnosed with early-onset type 2 diabetes

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Abstract

Objective

CEL-related maturity-onset diabetes of the young (CEL-MODY, MODY8) is a special type of monogenetic diabetes caused by mutations in the carboxyl-ester lipase (CEL) gene. This study aimed to summarize the genetic and clinical characteristics of CEL-MODY patients and to determine the prevalence of the disease among Chinese patients with early-onset type 2 diabetes (EOD).

Methods

We systematically reviewed the literature associated with CEL-MODY in PubMed, Embase, Web of Science, China National Knowledge Infrastructure and Wanfang Data to analyze the features of patients with CEL-MODY. We screened and evaluated rare variants of the CEL gene in a cohort of 679 Chinese patients with EOD to estimate the prevalence of CEL-MODY in China.

Results

In total, 21 individuals reported in previous studies were diagnosed with CEL-MODY based on the combination of diabetes and pancreatic exocrine dysfunction as well as frameshift mutations in exon 11 of the CEL gene. CEL-MODY patients were nonobese and presented with exocrine pancreatic affection (e.g., chronic pancreatitis, low fecal elastase levels, pancreas atrophy and lipomatosis) followed by insulin-dependent diabetes. No carriers of CEL missense mutations were reported with exocrine pancreatic dysfunction. Sequencing of CEL in Chinese EOD patients led to the identification of the variant p.Val736Cysfs*22 in two patients. However, these patients could not be diagnosed with CEL-MODY because there were no signs that the exocrine pancreas was afflicted.

Conclusion

CEL-MODY is a very rare disease caused by frameshift mutations affecting the proximal VNTR segments of the CEL gene. Signs of exocrine pancreatic dysfunction provide diagnostic clues for CEL-MODY, and genetic testing is vital for proper diagnosis. Further research in larger cohorts is needed to investigate the characteristics and prevalence of CEL-MODY in the Chinese population.

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Data availability

Data involved into the conclusions of this study are present in the paper and/or the Supplementary Materials. Additional data related to this paper are available on request from the corresponding authors due to privacy and ethical restrictions.

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Acknowledgements

We sincerely appreciate all patients in this study who volunteered to participate this research. And we are grateful to Dr. Linong Ji and Dr. Xueyao Han for superb research assistance and scientific discussion. For the collection of clinical samples, we would also like to express gratitude to our colleagues and the nursing staff of the Department of Endocrinology and Metabolism, Peking University People’s Hospital.

Author contributions

L.J. and X.H. coordinated the study. L.J., X.H. and S.G. designed the study and interpreted the results. M.L., X.W., F.W., X.C., W.L., Y.L., S.Z., R.Z., L.Z., Y.Z., Y.M., Q.R., X.Z., J.C., L.C., J.W., L.G., X.Z., Y.L., L.Z. helped to collect the data. Literature review, data collection, data analysis and the completion of the initial manuscript draft were performed by S.S.. All authors critically reviewed the manuscript and approved the submitted version. L.J., X.H. and S.G. are the guarantors of this work and have full access to all the data in the study and take responsibility for the integrity of the data and the accuracy of the data analysis.

Funding

Funding

This study was supported by the National Key R&D Program of China (Grant number 2016YFC1304901), National High-Technology Research and Development Program of China (2012AA02A509), the Beijing Science and Technology Committee Fund (Grant numbers: Z141100007414002, D13110000531300, Z201100005520012 and D131100005313008).

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  1. These authors contributed equally: Xueyao Han, Linong Ji

Authors and Affiliations

  1. Department of Endocrinology and Metabolism, Peking University People’s Hospital, Peking University Diabetes Center, No. 11, Xizhimen South Street, Beijing, 100044, China

    Siyu Sun, Siqian Gong, Meng Li, Xiaoling Cai, Wei Liu, Yingying Luo, Simin Zhang, Rui Zhang, Lingli Zhou, Yu Zhu, Yumin Ma, Qian Ren, Xiuying Zhang, Jing Chen, Ling Chen, Jing Wu, Leili Gao, Xianghai Zhou, Xueyao Han & Linong Ji

  2. Beijing Airport Hospital, No. 49, Shuangyu Street, Beijing, 101318, China

    Xirui Wang

  3. Capital Medical University Beijing Tiantan Hospital, No. 119, Nansihuan West Street, Beijing, 100050, China

    Fang Wang & Liyong Zhong

  4. Beijing Pinggu Hospital, No. 59, Xinping North Street, Beijing, 101200, China

    Yufeng Li

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Correspondence to Xueyao Han or Linong Ji.

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Sun, S., Gong, S., Li, M. et al. Clinical and genetic characteristics of CEL-MODY (MODY8): a literature review and screening in Chinese individuals diagnosed with early-onset type 2 diabetes. Endocrine 83, 99–109 (2024). https://doi.org/10.1007/s12020-023-03512-6

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