Clinical and genetic characteristics of young-onset diabetes with concurrent mitochondrial m.3243A>G and CEL gene mutations: A case report

doi:10.4239/wjd.v16.i12.113238

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World Journal of Diabetes

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1948-9358

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Baishideng Publishing Group Inc, 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA

Case Report

World J Diabetes. Dec 15, 2025; 16(12): 113238
Published online Dec 15, 2025. doi: 10.4239/wjd.v16.i12.113238

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Figure 1 Imaging examinations and fundus photography of the proband. A: Ultrasonogram of the urinary system; B and C: Abdominal Doppler ultrasound; D: Cervical Doppler ultrasound; E: Fundus photography.

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Figure 2 Sanger validation diagram and family pedigree chart. A-D: Whole-exome sequencing of the proband; E-H: Sanger sequencing of the proband’s mother and sister; I: Family pedigree chart.

Citation: Che XD, Wei ZL, Gong W, Qin L, Liu S, Jin YH, Wang HY. Clinical and genetic characteristics of young-onset diabetes with concurrent mitochondrial m.3243A>G and CEL gene mutations: A case report. World J Diabetes 2025; 16(12): 113238
URL: https://www.wjgnet.com/1948-9358/full/v16/i12/113238.htm
DOI: https://dx.doi.org/10.4239/wjd.v16.i12.113238