18Nov 2022
An effective pre-selection criterion for MODY with an increasingly positive genetic testing rate by NGS: results from two cohorts of Chinese children

An effective pre-selection criterion for MODY with an increasingly positive genetic testing rate by NGS: results from two cohorts of Chinese children

To determine the frequency of maturity-onset diabetes of the young (MODY) in two selected cohorts of Chinese children with diabetes and clinically suspected MODY, using next-generation sequencing (NGS). Methods: 93 children who met the comprehensive criteria of suspected MODY were enrolled in two cohorts. A custom NGS panel or a whole exon group was used for sequencing. The criteria used in this study for screening MODY are effective, and MODY2 is the most common subtype (76%), followed by MODY3 and MODY5. Some rare MODY subtypes have been reported in Chinese children.

  • #endo-diabetology

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