Identification and characterization of novel carboxyl ester lipase gene variants in patients with different subtypes of diabetes
Authors' conclusion
Our study identified five novel CEL variants in patients with different subtypes of diabetes, expanding the gene mutation spectrum of CEL and confirmed the pathogenicity of several novel variants.
Study context
- Population
- Patients diagnosed with diabetes in the past year at Shandong Provincial Hospital: 3 with maturity-onset diabetes of the young (MODY)-like diabetes, 1 newborn with T1D, 1 with atypical T2D, and their immediate family members
- Participants
- 5 patients
- Outcome
- Pathogenic CEL variants
Methodological detailswhole-exome sequencing, bioinformatic analysis, in vitro functional study, single-centre
- Whole-exome sequencing
- Bioinformatic analysis
- In vitro functional study
- Single-centre
Main finding
As reported in the abstract
- Novel heterozygous carboxyl ester lipase (CEL) variants identified, predicted pathogenic by bioinformatic analysis
- 5
Further findings
Distribution of reported CEL variants (Human Gene Mutation Database)
- Missense mutations located in exons 1, 3, 4, 10 and 11
- 74.3%
- Most missense variants clustered near catalytic triad, Arg-83 and Arg-443
Original publication
Identification and characterization of novel carboxyl ester lipase gene variants in patients with different subtypes of diabetes. BMJ Open Diabetes Res Care. Published 12 January 2023. doi:10.
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