A preliminary study to evaluate the strategy of combining clinical criteria and next generation sequencing (NGS) for the identification of monogenic diabetes among multi-ethnic Asians

Highlights • Genetic testing was conducted for Asians exhibiting MODY clinical phenotypes. • 15.5% of our study cohort harbored likely pathogenic/pathogenic variants. • Prevalence of MODY is non-trivial among Asians with young-onset diabetes. • MODY probability calculator (Exeter, UK) performed rela...

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Published inDiabetes research and clinical practice Vol. 119; pp. 13 - 22
Main Authors Ang, Su Fen, Lim, Su Chi, Tan, Clara SH, Fong, Jessie CW, Kon, Winston YC, Lian, Joyce X, Subramanium, Tavintharan, Sum, Chee Fang
Format Journal Article
LanguageEnglish
Published Ireland Elsevier Ireland Ltd 01.09.2016
Subjects
Asian Continental Ancestry Group - ethnology
Diabetes Mellitus - diagnosis
Diabetes Mellitus - ethnology
Endocrinology & Metabolism
Female
Genetic testing
Genetic Testing - methods
High-Throughput Nucleotide Sequencing - methods
Humans
MODY
Monogenic diabetes
Next-generation sequencing
MODY
Next-generation sequencing
Genetic testing
Monogenic diabetes
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Summary:Highlights • Genetic testing was conducted for Asians exhibiting MODY clinical phenotypes. • 15.5% of our study cohort harbored likely pathogenic/pathogenic variants. • Prevalence of MODY is non-trivial among Asians with young-onset diabetes. • MODY probability calculator (Exeter, UK) performed relatively well in our multi-ethnic cohort.
Bibliography:ObjectType-Article-1
SourceType-Scholarly Journals-1
ObjectType-Feature-2
content type line 23
ISSN:0168-8227
1872-8227
DOI:10.1016/j.diabres.2016.06.008