首页|Targeted gene panel provides advantages over whole-exome sequencing for diagnosing obesity and diabetes mellitus

Targeted gene panel provides advantages over whole-exome sequencing for diagnosing obesity and diabetes mellitus

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A small fraction of patients diagnosed with obesity or diabetes mellitus has an underlying monogenic cause.Here,we constructed a targeted gene panel consisting of 83 genes reported to be causative for monogenic obesity or diabetes.We performed this panel in 481 patients to detect causative variants and compared these results with whole-exome sequencing(WES)data available for 146 of these patients.The coverage of targeted gene panel sequencing was significantly higher than that of WES.The diagnostic yield in patients sequenced by the panel was 32.9%with subsequent WES leading to three additional diagnoses with two novel genes.In total,178 variants in 83 genes were detected in 146 patients by targeted sequencing.Three of the 178 variants were missed by WES,although the WES-only approach had a similar diagnostic yield.For the 335 samples only receiving targeted sequencing,the diagnostic yield was 32.2%.In conclusion,taking into account the lower costs,shorter turnaround time,and higher quality of data,targeted sequencing is a more effective screening method for monogenic obesity and diabetes compared to WES.Therefore,this approach could be routinely established and used as a first-tier test in clinical practice for specific patients.

molecular diagnosismonogenic diabetes mellitusmonogenic obesitytargeted panelwhole-exome sequencing

Hairong Yu、Haoyong Yu、Rong Zhang、Danfeng Peng、Dandan Yan、Yunjuan Gu、Yuqian Bao、Weiping Jia、Hong Zhang、Cheng Hu

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Shanghai Diabetes Institute,Shanghai Key Laboratory of Diabetes Mellitus,Shanghai Clinical Center for Diabetes,Shanghai Sixth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine,Shanghai 200233,China

Department of Endocrinology,Affiliated Hospital of Nantong University,Nantong 226001,China

Institute for Metabolic Disease,Fengxian Central Hospital Affiliated to Southern Medical University,Shanghai 201499,China

Shanghai Outstanding Academic LeadersMedical-Engineering Cross Foundation of Shanghai Jiao Tong UniversityShuguang ProjectInnovative Research Team of Highlevel Local Universities in ShanghaiShanghai Research Center for Endocrine,Metabolic DiseasesShanghai Sixth People's Hospital GrantShanghai Municipal Key Clinical Specialty

20XD1433300YG2021ZD2021SG11SHSMU-ZDCX202127002022ZZ01002ynhg202204

2023

10.1093/jmcb/mjad040

分子细胞生物学报(英文版)
中国科学院上海生命科学研究院,生物化学与细胞生物学研究所,中国细胞生物学学会

分子细胞生物学报(英文版)

CSTPCDCSCD
影响因子：0.595
ISSN：1673-520X
年,卷(期)：2023.15(6)
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