Identification and characterization of novel carboxyl ester lipase gene variants in patients with different subtypes of diabetes.

ABSTRACT:

Introduction

Mutations of CEL gene were first reported to cause a new type of maturity-onset diabetes of the young (MODY) denoted as MODY8 and then were also found in patients with type 1 (T1D) and type 2 diabetes (T2D). However, its genotype-phenotype relationship has not been fully determined and how carboxyl ester lipase (CEL) variants result in diabetes remains unclear. The aim of our study was to identify pathogenic variants of CEL in patients with diabetes and confirm their pathogenicity.

Research design and methods

All five patients enrolled in our study were admitted to Shandong Provincial Hospital and diagnosed with diabetes in the past year. Whole-exome sequencing was performed to identify pathogenic variants in three patients with MODY-like diabetes,

SUBMITTER: Wu H 

PROVIDER: S-EPMC9843195 | biostudies-literature | 2023 Jan

REPOSITORIES: biostudies-literature